Differential Diagnosis in Internal Medicine E-Book

• Herausgeber: Thieme
• Kategorie: Fachliteratur
• Sprache: Englisch

Seitenzahl: 2408

Veröffentlichungsjahr: 2007

Beschreibung

A pragmatic approach to differential diagnosis gives rapid, reliable answers to these questions: Which diseases are likely? What causes them? What are the typical characteristics of these disorders? Do they correspond with the symptoms in question? How can the preliminary diagnosis be confirmed? Siegenthaler's new Differential Diagnosis in Internal Medicine guides the reader through the challenges of differential diagnosis across the spectrum of internal medicine.

Practice-orientated learning:

• Identify and understand key symptoms
• Consider the whole patient in selecting possible diseases
• Evaluate, exclude or confirm possible diagnoses
• Make the correct diagnosis using an appropriate diagnostic procedure

Professor Walter Siegenthaler brings decades of international experience in clinical practice, teaching and writing on internal medicine to this new book. The book also benefits from close cooperation with the leaders of the specialist internal medicine departments at the University Hospital Zürich, and of other institutions and disciplines. The generalist and specialist aspects of internal medicine are thereby brought together to enhance the approach to the patient.

The book is directed at medical students, residents in most areas of medicine, practitioners of internal medicine, general practitioners, dermatologists, neurologists and rheumatologists and those involved with the basic subjects in medicine who wish to gain competence and knowledge in internal medicine.

From Symptom to Diagnosis:

• Organized by functional system and symptom constellations
• Covers all fields of internal medicine plus special treatment of subjects dermatology, neurology and rheumatology
• Typical findings and signs for differentiation of all common, rare and even "exotic" diseases with pathophysiological background information
• Nearly 1000 stunning figures and many instructive table-format overviews and d

Leseprobe

Differential Diagnosis in Internal Medicine

From Symptom to Diagnosis

Walter Siegenthaler, MD

Professor Emeritus of Internal MedicineUniversity of ZürichZürich, Switzerland

With contributions by

A. Aeschlimann, E. Baechli, C. Bassetti, E. Battegay, M. Battegay, K. Bloch, H.E. Blum, F. Duru, F.R. Eberli, T. Fehr, A. Fontana, M. Fox, M. Fried, K. Hess, U. Hoffmann, D. Jaeger, M. Kraenzlin, H. Kupferschmidt, S. Lautenschlager, B. Michel, E. Oechslin, P. Ott, P. Peghini, E.W. Russi, N. Schaefer, C. Scharf, C. Schmid, U. Schwarz, G.A. Spinas, S. Stoeckli, F. Tató, A. von Eckardstein, R. Weber, R.P. Wuethrich

Specialist Consultants

A. Aeschlimann: Rheumatology

A. Knuth: Hematology, Oncology

M. Battegay: Fundamentals of Differential Diagnosis

E.W. Russi: Pneumology

H.E. Blum: Gastroenterology, Hepatology

G.A. Spinas: Endocrinology, Diabetology

F.R. Eberli: Cardiology

R. Weber: Infectiology

P. Greminger: General Internal Medicine

R.P. Wuethrich: Nephrology

K. Hess: Neurology

789 illustrations323 tables

ThiemeStuttgart · New York

Library of Congress Cataloging-in-Publication Data

Siegenthalers Differentialdiagnose. English.

Differential diagnosis in internal medicine / [edited by] Walter Siegenthaler ; with contributions by A. Aeschlimann ... [et al.] ; specialist consultants, A. Aeschlimann ... [et al.]. --1st English ed.

p. ; cm.

ISBN 978-3-13-142141-8 (TPS : alk. paper) --

ISBN 978-1-58890-551-2 (TPN : alk. paper) 1. Diagnosis, Differential. 2. Physical diagnosis. 3. Internal medicine. I. Siegenthaler, Walter, 1923- II. Title.

[DNLM: 1. Diagnosis, Differential. 2. Internal Medicine. WB 141.5 S571 2007a]

RC71.D5447 2007

616.07'5--dc22

2007004243

This first English edition is a revised and updated authorized translation of the 19th German edition published and copyrighted 2005 by Georg Thieme Verlag, Stuttgart, Germany. Title of the German edition: Siegenthalers Differentialdiagnose: Innere Krankheiten - vom Symptom zur Diagnose.

© 2007 Georg Thieme Verlag,Rüdigerstrasse 14, 70469 Stuttgart,Germanyhttp://www.thieme.de

Thieme New York, 333 Seventh Avenue,New York, NY 10001, USAhttp://www.thieme.com

Illustrator: Joachim Hormann, Stuttgart, Germany;Plankensteiner + Hanig, Esslingen, Germany;Andrea Schnitzler, Innsbruck, Austria

Cover design: Thieme Publishing GroupTypesetting by primustype Hurler, Notzingen, Germany

Printed in Germany by APPL, aprinta druck, Wemding,Germany

ISBN 978-3-13-142141-8 (TPS, Rest of World)ISBN 978-1-58890-551-2 (TPN, The Americas)

1 2 3 4 5 6

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Nevertheless, this does not involve, imply, or express any guarantee or responsibility on the part of the publishers in respect to any dosage instructions and forms of applications stated in the book. Every user is requested to examine carefully the manufacturers’ leaflets accompanying each drug and to check, if necessary in consultation with a physician or specialist, whether the dosage schedules mentioned therein or the contraindications stated by the manufacturers differ from the statements made in the present book. Such examination is particularly important with drugs that are either rarely used or have been newly released on the market. Every dosage schedule or every form of application used is entirely at the user’s own risk and responsibility. The authors and publishers request every user to report to the publishers any discrepancies or inaccuracies noticed. If errors in this work are found after publication, errata will be posted at www.thieme.com on the product description page.

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Preface

The present book, Differential Diagnosis in Internal Medicine, first appeared as a German edition in 1952 and since then has been translated into 10 other languages. Over the past 50 years 19 German editions have been published, and now the 19th edition of the work, which has become the classic differential diagnosis textbook, is available in English for the first time.

This book encompasses differential diagnosis across the spectrum of internal medicine, covering dermatology, neurology, and rheumatology, and provides the very latest knowledge including pathophysiological aspects. In contrast to encyclopedically structured textbooks, this book traces the path from symptom to diagnosis, just as the physician encounters the situation in the hospital and in the office.

With this pragmatic approach—starting from the symptom(s)—the physician will usually succeed in substantiating the suspected diagnosis. Using this method, Siegenthaler’s Differential Diagnosis in Internal Medicine guides the reader through the differential diagnostic challenges in the entire field of internal medicine, including dermatology, neurology, and rheumatology. The book incorporates many relevant and instructive illustrations, tables, graphics, and algorithms, all contributing to the process of narrowing down a definitive diagnosis.

The book is intended for medical students, physicians in clinical practice, generalists, and specialists in internal medicine, dermatology, neurology, and rheumatology, and also for all those concerned with the fundamental subjects of medicine, who wish to gain a competent knowledge of internal medicine.

My thanks are due to all of the colleagues who worked with me on the book, and also to Thieme Publishing Group, in particular Thieme Publishers Stuttgart. I hope that, with the launch of the English edition, this classic textbook of differential diagnosis in internal medicine will now also find its place in the English-speaking world.

Walter Siegenthaler, MDProfessor Emeritus of Internal MedicineUniversity of ZürichZürich, Switzerland

Foreword

I first met Professor Walter Siegenthaler in the 1970s while he was at the University of Zürich, where both he and his late wife, the superb clinician Doctor Gertrud Siegenthaler-Zuber, were admired for their many accomplishments and dedication to the advancement of medicine. At that time, Professor Siegenthaler helped me establish a program to bring cardiologists from the Baylor College of Medicine and the Methodist Hospital in Houston, Texas, to Switzerland to study the pioneering balloon angioplasty work of Andreas Gruentzig. Subsequently, he honored us by serving as a Visiting Professor at Baylor, exemplifying the best of Swiss medicine. Now, 30 years later, Professor Siegenthaler remains at the leading edge of medicine, as this expertly realized book in your hands attests.

Differential diagnosis is the fundamental methodology of modern clinical medicine: we note the patient’s symptoms; we develop hypotheses for the affliction and propose treatment; and we adjust treatment based on the patient’s response. Thus, differential diagnosis requires the physician to be observant, knowledgeable, thoughtful, thorough, and organized, qualities that could also be used to describe the conceptualization and execution of the following pages. In the last few decades, we have seen stunning advances in the level of clinical care and diagnostic procedures available across the spectrum of human diseases. The sophistication of contemporary nosology is truly impressive.

On the other hand, the rapid turnover of medical information can prove daunting to many clinicians, and the application of the latest evidence to our daily interactions with patients may seem unclear or too complex. Siegenthaler’s Differential Diagnosis in Internal Medicine reminds us to approach diagnostic problems in a practical, systematic, and critical manner, remembering that each patient’s circumstance is unique and that it is every doctor’s responsibility to exercise his or her best educated judgment to present rational choices about the most probable diagnoses and optimal treatment courses. Occam’s Razor, which advises us that the simplest explanation is usually the correct one, all things being equal, is an important precept in diagnostic medicine, yet doctors must also be flexible and adaptable to the eccentricities of every case. Thus, physicians should not expect to see a zebra when confronted with a horse, but they should be able to recognize the zebra on the rare occasion that it makes an appearance.

I believe that the scholarship, clinical skill, and practical wisdom that Professor Siegenthaler and his colleagues share with us in this text are indispensable resources for the medical community. The wealth of illustrative photographs, informative tables, and up-to-date discussion of issues in internal medicine will prove very useful in daily clinical practice.

Antonio M. Gotto, Jr., MD, DPhilThe Stephen and Suzanne Weiss DeanProfessor of MedicineWeill Cornell Medical CollegeProvost for Medical AffairsCornell UniversityNew York, USA

Contributors

Editor

Prof. Dr. med. Dr. h. c. Walter SiegenthalerForsterstr. 618044 Zürich, Switzerland

Authors

André Aeschlimann, MDProfessorRehaClinic ZurzachZurzach, Switzerland

Esther Baechli, MDSpital UsterMedical ClinicUster, Switzerland

Claudio Bassetti, MDProfessorUniversity Hospital ZürichClinic and Policlinic for NeurologyZürich, Switzerland

Edouard Battegay, MDProfessorUniversity Hospital BaselMedical PoliclinicBasel, Switzerland

Manuel Battegay, MDProfessorUniversity Hospital BaselDepartment of MedicineDivision of InfectiologyBasel, Switzerland

Peter Bauerfeind, MDAssociate ProfessorUniversity Hospital ZürichDepartement of Internal MedicineDivision of Gastroenterology and HepatologyZürich, Switzerland

Konrad Bloch, MDProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of PneumologyZürich, Switzerland

Hubert E. Blum, MDProfessor and DirectorDepartment of Internal Medicine IIUniversity Medical CenterFreiburg, Germany

Thomas Bombeli, MDAssociate ProfessorResearch and DevelopmentNovo Nordisk S/ABagsvaerd, Denmark

Firat Duru, MDProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of CardiologyCardiovascular CenterZürich, Switzerland

Franz Eberli, MDAssociate ProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of CardiologyCardiovascular CenterZürich, Switzerland

Joerg Fehr, MDProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of HematologyZürich, Switzerland

Thomas Fehr, MDAssociate ProfessorCenter for NephrologyUniversity Hospital ZürichZürich, Switzerland

Adriano Fontana, MDProfessorUniversity Hospital ZürichFaculty of MedicineDepartment of Internal MedicineDivision of Clinical ImmunologyZürich, Switzerland

Mark Fox, MDResearch ConsultantUniversity Hospital ZürichZürich, Switzerland

Michael Fried, MDProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of Gastroenterology and HepatologyZürich, Switzerland

Peter Greminger, MDProfessorSt Gallen Canton HospitalDepartment of Internal MedicineSt Gallen, Switzerland

Klaus Hess, MDProfessorUniversity Hospital ZürichClinic and Policlinic for NeurologyZürich, Switzerland

Ulrich Hoffmann, MDProfessorUniversity of Munich HospitalVascular Center—AngiologyMunich, Germany

Sabina Hunziker, MDUniversity Hospital BaselMedical PoliclinicBasel, Switzerland

Dirk Jaeger, MDAssociate ProfessorDirector of Clinical OncologyNational Center for Tumor DiseasesHeidelberg, Germany

Alexander Knuth, MDProfessorUniversity Hospital ZürichClinic and Policlinic for OncologyZürich, Switzerland

Marius Kraenzlin, MDAssociate ProfessorBasel, Switzerland

Hugo Kupferschmidt, MDSwiss Toxicology InformationCenter (STIZ)Zürich, Switzerland

Stephan Lautenschlager, MDAssociate ProfessorDermatology ClinicStadtspital TriemliZürich, Switzerland

Hans-Peter Marti, MDProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of NephrologyZürich, Switzerland

Benedict Martina, MDAssociate ProfessorBasel University HospitalMedical PoliclinicBasel, Switzerland

Darius Moradpour, MDProfessorVaudois University HospitalGastroenterology andHepatology ServiceLausanne, Switzerland

Beat Muellhaupt, MDAssociate ProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of Gastroenterology and HepatologyZürich, Switzerland

Beat A. Michel, MDProfessorUniversity Hospital ZürichRheumatism Clinic andInstititute of Physical MedicineZürich, Switzerland

Erwin Oechslin, MDProfessorDirector Congenital Cardiac Centrefor AdultsUniversity Health NetworkToronto, Canada

Peter Ott, MDProfessorUniversity Hospital ZürichOtorhinolaryngology PoliclinicZürich, Switzerland

Pietro Peghini, MDUniversity Hospital ZürichDepartment of Internal MedicineDivision of HematologyZürich, Switzerland

Erich W. Russi, MDProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of PneumologyZürich, Switzerland

Niklaus Schaefer, MDUniversity Hospital ZürichClinic and Policlinic for OncologyZürich, Switzerland

Urs Schanz, MDAssociate ProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of HematologyZürich, Switzerland

Christoph Scharf, MDAssociate ProfessorKlinik im ParkZürich, Switzerland

Christoph Schmid, MDProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of Endocrinology and DiabetologyZürich, Switzerland

Urs Schwarz, MDAssociate ProfessorUniversity Hospital ZürichClinic and Policlinic for NeurologyZürich, Switzerland

Werner Schwizer, MDAssociate Professor University Hospital ZürichDepartment of Internal MedicineDivision of Gastroenterology and HepatologyZürich, Switzerland

Giatgen A. Spinas, MDProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of Endocrinology and DiabetologyZürich, Switzerland

S. Stoeckli, MDAssociate ProfessorUniversity Hospital ZürichOtorhinolaryngology ClinicZürich, Switzerland

Federico Tató, MDAssociate ProfessorUniversity of Munich HospitalVascular Center—AngiologyMunich, Germany

Miriam Thumshirn, MDAssociate ProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of Gastroenterology and HepatologyZürich, Switzerland

Arnold von Eckardstein, MDProfessorUniversity Hospital ZürichInstitute of Clinical ChemistryZürich, Switzerland

Rainer Weber, MDProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of Infectious Diseases and Hospital HygieneZürich, Switzerland

Rudolf P. Wuethrich, MDProfessorUniversity Hospital ZürichDepartment of Internal MedicineDivision of NephrologyZürich, Switzerland

Contents

1        General Aspects of Diagnosis and Differential Diagnosis

M. Battegay, B. Martina, and E. Battegay

1.1     Elements of the Differential Diagnosis

Disease and Differential Diagnosis

Practical Procedure for Establishing a Diagnosis

Correct Evaluation of Evident Findings and the Differential Diagnosis

How to Handle Errors in the Medical Field

Factors That Can Lead to False Diagnoses

Physician-specific Problems

Patient-specific Problems

1.2     Factors That Can Influence the Differential Diagnostic Thought Process

Prevalence of Diseases

Age

Gender

Lifestyle

Eating Habits

Season, Time of Day, and Weather

Geographic Distribution

Ethnic Groups

Profession and Leisure

Precluding or Promoting Diseases

1.3     Differential Diagnosis by Groups of Diseases

Degenerative Conditions

Infectious Diseases

Immune Mediated Diseases

Tumors

Metabolic Diseases

Dysfunction of the Endocrine System

Mental Disorders

Hereditary Diseases

Chromosome Anomalies

Simple Mendelian Genetics

Allergies

Multifactorial Heredity

Intoxications

2        History, Physical Examination, and Important Subjective Complaints

E. Battegay, S. Hunziker, and G.A. Spinas

2.1     Medical History

Greeting and Interview Setting

Components of the Clinical Interview

2.2     Physical Examination

Lymph Nodes

Thyroid Gland

Cardiovascular System

Chest and Lungs

Inspection

Palpation

Percussion

Auscultation

Abdomen

Inspection

Palpation

Musculoskeletal System

Neurological Examination

2.3     The Asymptomatic Patient (Checkup)

Disease Prevention in Healthy Persons

Vaccinations

Screening and Differential Diagnosis in Apparently Healthy Persons

Periodic Health Exams

Case Finding

Hidden Agendas

2.4     Important Subjective Complaints

Appetite

Amenorrhea

Thirst/Polydipsia

Diabetes Mellitus

Definition of Diabetes Mellitus

Type 1 Diabetes

Type 2 Diabetes

Specific Types of Diabetes

Gestational Diabetes

Complications of Diabetes Mellitus

Diabetes Insipidus

Central Diabetes Insipidus

Renal Diabetes Insipidus

Primary Polydipsia

Vomiting

Infertility

Hemoptysis

Cough

Fatigue

Palpitations

Insomnia

Dysphagia

Hiccups

Pain

Sexual Dysfunction

3        Skin and External Appearance

S. Lautenschlager, M. Battegay, and G.A. Spinas

3.1     Skin

Method of Examination

Clinical Findings

Skin Color

Pallor

Redness

Discoloration

Disturbances of Pigmentation

Erythema and Exanthems

Vesicular Skin Diseases

Bullous Skin Diseases

Papular Skin Diseases

Plaque-forming Skin Diseases

Nodular Skin Diseases

Pustular Skin Diseases

Ulcerations of the Skin

Urticarial Skin Diseases

Purpura

Telangiectasias

Disturbances of Skin Turgor

Calcifications of the Skin

Skin Changes Due to Systemic Disease

Skin Changes Due to Metabolic Disorders

Skin Changes Due to Endocrine Disorders

Skin Changes Due to Tumors

Skin Changes Due to Collagenoses

Skin Changes as Adverse Effects of Medications and Intoxications

Skin Changes Due to Hematologic Diseases

Skin Changes Due to Gastrointestinal Disorders

Skin Changes Due to Hepatic Diseases

Skin Changes Due to Heart Disease

Neurocutaneous Diseases

Skin Changes Due to Infection

Hair

Hair Loss

Hirsutism and Virilism

Pigmentation Disorders

Nails

Changes in Nail Shape and Structure

Nail Discoloration

Oral Cavity

Changes of the Teeth

Changes of the Gums

Changes of the Oral Mucosa

Tongue

3.2     External Appearance

Stature and Posture

Tall Stature

Tall Stature Due to Congenital Syndromes

Tall Stature Due to Endocrine Disorders

Short Stature

Short Stature Due to Congenital Syndromes

Short Stature Due to Skeletal Dysplasias

Short Stature Due to Chronic Diseases and Malabsorption Syndromes

Short Stature Due to Endocrine Disorders

Standing Posture

Lying Posture

Gait

Obesity

Primary Obesity

Secondary Obesity

Localized Collections of Fat and Lipody-strophies

Gynecomastia

Anorexia

Hands

Face

Eyes

Exophthalmos

Horner Syndrome, Enophthalmos

Eyebrows

Eyelids

Sclerae

Cornea

Lens

Iris

Pupil

Vitreous Body

Retina

The Red Eye

Ocular Motility

Ears

Nose

Odor

Language, Speech, and Phonation

Disturbances of Language and Speech

Disturbances of Phonation

4        Fever

R. Weber and A. Fontana

4.1     General Remarks

Medical History and Clinical Findings

Differential Diagnostic Considerations

Fever of Unknown Origin

4.2     Fever without Localized Symptoms

Infectious Diseases

Noninfectious Causes

Hospitalized Patients

4.3     Fever with Associated Cardinal Symptoms

Fever and Skin Rashes

Petechiae and Purpura

Maculopapular Exanthema

Vesicles and Pustules

Nodular Skin Lesions

Erythema

Urticaria

Ulcers

Bacterial Skin Infections

Mycobacterial Skin Infections

Rickettsial Diseases

Viral Diseases with Skin Rashes

Fever and Joint or Bone Pain

Arthritis

Osteomyelitis, Spondylodiscitis, and Joint Prostheses Infections

Fever and Lymph Node Enlargement

Fever and Generalized Lymph Node Enlargement

Fever and Localized Lymph Node Enlargement

Infections of the Lymph Nodes

Lymphadenopathy of Unknown Origin

Fever and Swelling of the Face or Neck

Parotid Swelling

Neck Swelling

Fever, Headaches, and Neck Stiffness

Examination of the Cerebrospinal Fluid (CSF)

Bacterial Meningitis

Serous Meningitis

Fungal Meningitis

Meningitis Caused by Protozoa or Helminths

Concomitant Cases of Meningitis

Fever and Neurological Deficits

Encephalitis

Cerebral Abscess

Subdural Empyema, Epidural Abscess

Fever with Common Cold Symptoms

Bacterial Tonsillitis and Pharyngitis

Nonbacterial Pharyngitis

Common Cold

Influenza

Sinusitis

Otitis

Epiglottitis

Bronchitis

Fever, Cough, and Thoracic Pain

Pneumonia

Tuberculosis

Nontuberculous Mycobacterioses

Nocardiosis

Pericarditis, Myocarditis

Noninfectious Diseases

Fever and Jaundice

Prehepatic Jaundice

Hepatic Jaundice

Posthepatic Jaundice

Fever and Splenomegaly

Fever and Diarrhea

Intestinal Infections

Pathogens Causing Diarrhea

Fever and Abdominal Pain

Intra-abdominal Infections

Peritonitis

Intra-abdominal Abscesses

Visceral Abscesses

Specific Causes of Intra-abdominal Infections

Fever, Dysuria, and Pollakisuria

Urethritis

Acute Uncomplicated Urinary Tract Infections in Women

Acute Uncomplicated Pyelonephritis

Acute Complicated Pyelonephritis

Prostatitis

Fever and Sepsis

Systemic Inflammatory Response Syndrome (SIRS)

Sepsis

Bacteremia

Sources of Sepsis, Predisposition

Selected Sepsis Pathogens

Fever and Heart Defects

Endocarditis

Other Endovascular Infections

4.4     Fever with Multiple Organ Involvement

Viral Diseases

Cytomegalovirus Infection

Tickborne Infections

Lyme Disease

Ehrlichiosis

Babesiosis

Sexually Transmitted Infections

Syphilis (Treponema pallidum)

Chlamydia trachomatis

Zoonosis

Brucellosis (Brucella melitensis, B. abortus, B. suis)

Leptospirosis (Leptospira interrogans [Weil disease] and other serotypes)

Toxoplasmosis (Toxoplasma gondii)

Trichinosis (Trichinella spiralis)

Toxocara Infection

Rabies (Rhabdoviruses)

Other Infections Caused by Animal Bites

Infections by Arboviruses

HIV Infection and AIDS

Acute HIV Infection

Asymptomatic HIV Infection

Symptomatic HIV Infection, AIDS

Infections in Immunocompromised Persons

Opportunistic Viral Infections

Opportunistic Bacterial Infections

Opportunistic Fungal Infections

Opportunistic Protozoa and Helminths

Mycoses in Localized Endemic Regions

Coccidioidomycosis (Coccidioides immitis)

Histoplasmosis (Histoplasma capsulatum)

Travel and Tropical Diseases

Malaria

Leishmaniasis (Leishmania donovani)

Schistosomiasis (Bilharziosis)

Lymphatic Filariasis

Tissue Filariases

Dengue Fever

Yellow Fever

Other Tropical Diseases

4.5     Fever in Autoimmune Diseases

Localized or Organ-Specific Autoimmune Diseases

Generalized Autoimmune Disease, Vasculitis, and Connective Tissue Syndrome

Vasculitis of Large Vessels

Giant Cell Arteritis (Arteritis Temporalis Horton) and Polymyalgia Rheumatica Syndrome

Vasculitis of Medium-Sized Vessels

Polyarteritis Nodosa or Panarteritis

Vasculitis of Small Vessels

Wegener Granulomatosis

Allergic Granulomatosis (Churg-Strauss Syndrome)

Hypersensitivity Vasculitis

Purpura-Arthralgia-Nephritis Syndrome

Systemic Lupus Erythematosus (SLE)

Scleroderma (Progressive Diffuse or Generalized Scleroderma or Progressive Systemic Sclerosis [PSS])

Circumscribed Scleroderma

Scleroederma Adultorum (Buschke Syndrome)

Eosinophilic Fasciitis (Shulman Syndrome)

Sharp Syndrome, Overlap Syndrome (Mixed Connective Tissue Disease [MCTD])

Dermatomyositis (Polymyositis)

4.6     Fever in Immune Deficiencies

Classification of Immune Deficiency

Humoral Immune Deficiencies (B-cell Deficiencies)

Cellular Immune Deficiencies (T cell Deficiencies)

Combined Humoral and Cellular Immune Deficiencies

Defects of the Complement System

Defects of Phagocytosis

4.7     Fever in Various Noninfectious Conditions

Periodic Fever

Familial Mediterranean Fever

Hyper-IgD Syndrome

Tumor Necrosis Factor Receptor-associated Periodic Fever Syndrome (TRAPS)

“PFAPA” Syndrome

Fever in Endocrine Disorders

Fever in Vegetative Dystonia

Chronic Mercury Intoxication

Chronic Fatigue Syndrome

Fever in Tumors

Fever in Tissue Degradation

Fever in Hemolysis

Hemophagocytosis Syndrome

Fever in Thrombosis and Thrombophlebitis

Fever in Allergic Reactions

Simulated Fever

4.8     Significance of Individual Findings for the Differentiation of Febrile States

Course of the Temperature

Chills

Inflammation Parameters

Erythrocyte Sedimentation Rate (ESR)

C-reactive Protein (CRP)

Procalcitonin

Blood Count

Leukocytes

Eosinophils

Monocytes

Lymphocytes

5        Head and Facial Pain and Neuralgia of the Head Area

K. Hess

5.1     Introduction

5.2     Symptomatic Headache

Subarachnoid Hemorrhage

Meningitis, Neoplastic Meningitis, Meningoencephalitis, Encephalitis, and Brain Abscess

Intracerebral Bleeding

Carotid and Vertebral Artery Dissection

Ischemic Brain Lesions

Acute Occlusive Hydrocephalus

Venous Sinus and Cerebral Venous Thrombosis

Pituitary Apoplexy

Subdural Hematoma

CSF Leak (Intracranial Hypotension)

Tumor and Pseudotumor Cerebri (Idiopathic Cranial Hypertension)

Giant Cell Arteritis and Other Vasculitis

Sleep Apnea Syndrome

Epileptic Seizures

Posttraumatic Headaches

Cervicogenic Headache

Headaches and Facial Pain in Ophthalmologic, Otorhinologic, and Orthodontic Diseases

Ophthalmology

Otorhinolaryngology

Odontology

Headaches of Organic Origin

5.3     Idiopathic Headache

Migraine without Aura

Migraine with Aura

Basilar Migraine and Other Special Forms of Migraine with Aura

Tension Headache

Cluster Headache (Bing-Horton Headache) and Chronic Paroxysmal Hemicrania

Thunderclap, Exertional, and Orgasm Headache

5.4     Neuralgia in the Head Region

Idiopathic and Symptomatic Trigeminal Neuralgia

Idiopathic and Symptomatic Glossopharyngeal Neuralgia

Occipitalis Major/Minor Neuralgia

Rare Facial Neuralgias. Neuralgiform Pain in Cranial Nerve Syndromes

Traumatic Neuralgia, Painful Anesthesia, and Central Facial Pain

5.5     Atypical Facial Pain

6        Chest Pain

F.R. Eberli and E.W. Russi

6.1     Pain Originating from the Heart

Angina Pectoris

Definitions

Clinical Characteristics of Angina Pectoris

Special Forms of Angina Pain

Angina Pectoris Caused by Myocardial Ischemia

Chronic Stable Angina Pectoris

Risk Factors of Coronary Artery Disease

Dyslipoproteinemia

Diagnostic Methods in Coronary Heart Disease

Acute Coronary Syndrome (ACS)

Acute Coronary Syndrome (ACS) without ST Segment Elevation (Non-STEMI)

Acute Coronary Syndrome (ACS) with ST Segment Elevation

Pericarditis and Pericardial Effusion

Arrhythmias

6.2     Pain Originating from Diseases of the Large Vessels

Aortic Aneurysm

Aortic Dissection

6.3     Pain Originating from the Pleura

Pleuritis

Pleural Effusion

Tuberculous Effusion

Neoplastic Pleural Effusion

Pleural Effusion in Abdominal Diseases

Pleural Effusion in Myxedema

Pleural Effusion in Collagen-Vascular Diseases

Yellow Nail Syndrome and Pleural Effusion

Eosinophilic Pleuritis

Chylothorax and Pseudochylothorax

Pleural Effusion and Pulmonary Infarction

Pleural Effusion and Pneumonia

Pleural Empyema

Pleural Neoplasms

Pleural Mesothelioma

Benign Pleural Tumors

Malignant Lymphoma

Spontaneous Pneumothorax

6.4     Intercostal Pain

6.5     Pain Originating from Joints and the Vertebral Column

6.6     Musculoskeletal Thoracic Pain

6.7     Pain Originating from the Esophagus

6.8     Other Causes for Thoracic Pain

7        Abdominal Pain

D. Moradpour and H.E. Blum

7.1     Acute Abdominal Pain

Acute Abdomen

Intestinal Pain

Ileus

Mechanical Ileus

Paralytic Ileus

Acute Appendicitis

Peritoneal Pain

Peritonitis

Pain from Vascular Causes

Mesenteric Infarction and Abdominal Angina

Aortoiliac Steal Syndrome

Aortic Aneurysm

Thrombosis of the Mesenteric and Portal Veins

Splenic Pain

Retroperitoneal Pain

Retroperitoneal Fibrosis

Abdominal Pain from Intoxication and in Systemic Diseases

Intoxication

Porphyrias

Hepatic Porphyrias

Erythropoietic Porphyrias

Abdominal Pain in Other Medical Diseases

Neurogenic Abdominal Pain

7.2     Chronic or Recurring Abdominal Pain

Pain Originating from the Stomach and Small Intestine

Acute Gastritis

Chronic Gastritis

Ulcers

Irritable Stomach (Functional Dyspepsia)

Duodenal Ulcer

Gastric Ulcer

Ulcer Associated with Other Diseases

Late Complications of Ulcer Disease

Gastric Carcinoma

Hematemesis

Melena

Rare Gastric Diseases

Hiatal Hernia

Reflux Esophagitis

Complaints after Gastric Surgery

Pain Originating from the Colon

Irritable Bowel Syndrome (IBS)

Pain Originating from Bile Ducts and Liver

Cholelithiasis

Liver Diseases Associated with Cholelithiasis

Complaints after Cholecystectomy

Diseases of the Pancreas

Acute Pancreatitis

Chronic Pancreatitis

Space-Occupying Lesions in the Pancreatic Region

Pancreatic Cysts

Pancreatic Carcinoma

8        Neurogenic Arm and Leg Pain

K. Hess

8.1     Introduction and Definitions

8.2     Central Pain Syndromes (Brain, Spinal Cord)

8.3     Radiculopathy

8.4     Plexus Lesions, Polyneuropathy, and Mononeuropathy

8.5     Algodystrophy Syndromes

8.6     Differential Diagnosis of Unilateral Neurogenic Arm Pains

Clinical Features and Differential Diagnosis

8.7     Differential Diagnosis of Unilateral Neurogenic Leg Pains

Signs and Differential Diagnosis

8.8     Differential Diagnosis of Bilateral Neurogenic Arm and/or Leg Pains

Signs and Differential Diagnosis

9        Pain Due to Vascular Disease

U. Hoffmann and F. Tatò

9.1     Arterial Disorders

Arterial Occlusive Disease

Symptoms

Intermittent Claudication

Ischemic Rest Pain and Skin Lesions

Stages of Peripheral Arterial Disease

Diagnostic Approach

Obliterating Arteriosclerosis

Thromboangiitis Obliterans (Buerger Disease)

Collagen Vascular Disease

Giant Cell Arteritis

Takayasu Arteritis

Iatrogenic Arterial Disease

Popliteal Entrapment Syndrome

Cystic Adventitial Disease

Fibromuscular Dysplasia

Essential Thrombocytosis

Medial Calcinosis

Embolic Occlusions

Aneurysms of Peripheral Arteries

Fusiform and Saccular Aneurysms

False Aneurysms (Pseudoaneurysms)

Arteriovenous Fistula

Functional Vascular Disease

Vasospasm of Large Muscular Arteries (Ergotism)

Raynaud Phenomenon

Acrocyanosis and Erythrocyanosis

Erythromelalgia

9.2     Microvascular Disease

Diabetic Microangiopathy

Microangiopathy in Connective Tissue Disease

Livedo Reticularis and Livedo Racemosa

Paroxysmal Finger Hematoma

Tibialis Anterior Syndrome

9.3     Diseases of the Veins

Superficial Thrombophlebitis

Deep Vein Thrombosis of the Pelvis and Legs

Arm Vein Thrombosis (Thrombose Par Effort)

Primary Varicosis

Chronic Venous Insufficiency

9.4     Disorders of the Lymphatic Vessels

9.5     Thoracic Outlet Syndrome (TOS)

9.6     Restless Legs

9.7     Sudeck Disease

10      Pain in Joint Diseases

B.A. Michel and P. Greminger

10.1   Inflammatory Rheumatic Joint Disorders

Rheumatoid Arthritis

Felty Syndrome

Adult Still Disease

Sjögren Syndrome

Juvenile Chronic Arthritis

Spondylarthropathies

Ankylosing Spondylitis (Bekhterev Disease)

Psoriatic Arthritis

Reactive Arthritis (Reiter syndrome)

Rheumatic Fever

Arthropathies Associated with Enterocolitis

Behçet Disease

SAPHO Syndrome

Undifferentiated Spondylarthropathy

Arthropathies Associated with Metabolic Diseases

Arthritis Urica (Gout)

Chondrocalcinosis (Pseudogout)

Diffuse Idiopathic Skeletal Hyperostosis (DISH)

Ochronosis (Alkaptonuria)

Primary Amyloidosis

Hemochromatosis

Wilson Disease

Other Arthropathies

Hematologic Disorders

Arthrititis Associated with Neoplasms

Arthropathies in Endocrine Disorders

Arthropathies in Neurologic Disorders

Cartilage Disorders

10.2   Degenerative Joint Disorders

Osteoarthritis

Degenerative Disease of the Spine (Ostearthritis of the Intervertebral Joints, Spondylosis Deformans)

10.3   Soft Tissue Rheumatism

Fibromyalgia

Periarthropathies

Periarthropathia Humeroscapularis

Other Localized Periarthropathies

11      Localized Bone Lesions

A. Aeschlimann and M.E. Kraenzlin

11.1   Localized Bone Changes

Bone Tumors

Bone Tumors Derived from Cartilage

Osteogenic Tumors

Connective Tissue Tumors

Myelogenic Tumors

Vascular Tumors

Histiocytic Tumors

Other Tumors

Tumors of Unknown Etiology

Lesions Resembling Tumors

Gaucher Disease

Mastocytosis

Diseases with Hyperostosis

Osteonecrosis

Avascular Necrosis in Childhood and Adolescence

Osteonecrosis in Adulthood

Paget Disease of Bone

11.2   Generalized Bone Changes

Osteoporosis

Secondary Osteoporosis

Osteomalacia

Hyperparathyroidism

Primary Hyperparathyroidism

Secondary Hyperparathyroidism

12      Generalized and Localized Edema

U. Hoffmann and F. Tató

12.1   Generalized Edema

Edema Related to Heart Failure

Hypoproteinemic Edema

Edema Related to Glomerulonephritis

Edema Related to the Endocrine System

Edema Related to Electrolyte Imbalance

Edema Related to Scleroderma

Edema Related to Diabetes Mellitus

Drug-Related Edema

12.2   Localized Edema

Venous Edema

Lymphedema

Primary Lymphedema

Secondary Lymphedema

Lipedema

Inflammatory Edema

Congenital Angiodysplasia

Urticaria and Angioedema

Ischemic and Postischemic Edema

Edema in Sudeck Atrophy

Local Edema Occurring at High Altitudes

Factitious Edema

13      Anemia

P.E. Peghini, A. Knuth, and J. Fehr

13.1   Microcytic Hypochromic Anemia

Iron Deficiency Anemia

Anemia of Chronic Disease

Other Disorders of Iron Metabolism

Disorders of Hemoglobin Synthesis (Thalassemia)

Sideroachrestic Anemia

13.2   Macrocytic Normochromic Anemia

Pernicious Anemia

Other Causes of Vitamin B12 Deficiency

Folic Acid Deficiency

Other Causes of Macrocytic Anemia

13.3   Hyporegenerative Normochromic Normocytic Anemia

Renal Anemia

Hepatic Anemia

Anemia Associated with Endocrine Disorders

Aplastic Anemia

Erythroblast Aplasia (Pure Red-Cell Aplasia)

Myelodysplastic Syndrome

Bone Marrow Infiltration

Plasma Volume Expansion

13.4   Hemolytic Anemia

Exogenous Hemolytic Anemia

Alloimmune Hemolytic Anemia

Autoimmune Hemolytic Anemia

Paroxysmal Cold Hemoglobinuria

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Hemolysis with Erythrocyte Fragmentation

Thrombotic Thrombocytopenic Purpura (TTP) and Hemolytic Uremic Syndrome (HUS)

Metastatic Carcinoma

Chemotherapy

Transplant-Associated Microangiopathy

Pregnancy

Malignant Hypertension

Disseminated Intravascular Coagulation (DIC)

Autoimmune Diseases

Hemoglobinopathy

Erythrocyte Shape Variations

Defects of Erythrocyte Enzymes

Enzyme Deficiencies in the Hexose Monophosphate Shunt and Glutathione Metabolism

14      Disorders of the Lymphatic System

U. Schanz, D. Jaeger, and J. Fehr

14.1   Hemopoietic Neoplasia

Leukemia

Acute Forms of Leukemia

Acute Lymphocytic Leukemia (ALL)

Acute Myelogenous Leukemia (AML)

Chronic Forms of Leukemia

Chronic Myeloid Leukemia (CML)

Chronic Lymphocytic Leukemia (CLL)

Hairy Cell Leukemia (HCL)

Myelodysplastic Syndrome (MDS)

Myeloproliferative Syndrome (MPS)

Polycythemia Rubra Vera

Chronic Idiopathic Myelofibrosis (Osteomyelofibrosis)

Essential Thrombocythemia

14.2   Malignant Lymphomas

Hodgkin Lymphoma

Non-Hodgkin Lymphoma (NHL)

MALT Lymphoma

Mantle Cell Lymphoma

Rare Non-Hodgkin Lymphoma

Multiple Myeloma and Waldenström Disease

Multiple Myeloma (Plasma Cell Myeloma)

Waldenström Disease (Lymphoplasmocytic Lymphoma, Macroglobulinemia)

14.3   Histiocytosis

Langerhans Cell Histiocytosis

Non-Langerhans Cell Histiocytosis

14.4   Reactive Lymphadenopathy and/or Splenomegaly

Localized Lymphadenopathy

Generalized Lymphadenopathy with or without Splenomegaly

15      Bleeding Diathesis and Thrombophilic Diathesis

E. Baechli and T. Bombeli

Importance of Coagulation in Disease Processes

15.1   Bleeding Diathesis

Clinical Approach

Disorders of Primary Hemostasis

Congenital Thrombocytopathies

Acquired Thrombocytopathies

Thrombocytopenia

Idiopathic Thrombocytopenic Purpura (ITP)

Thrombocytopenia Due to Abnormal Platelet Production

Hypersplenism or Platelet Pooling

Thrombocytopenia Due to Increased Peripheral Consumption

Disorders of Secondary Hemostasis

Hemophilias A and B

Von Willebrand Disease

Vitamin K Deficiency

Liver Disease

Oral Anticoagultion (OAC)

Heparins

Vascular Bleeding Diathesis

Proliferative Vascular Disorders

Osler-Weber-Rendu Disease

Structural Defects

Abnormal Composition of the Vessel Wall

Infiltration of the Vessel Wall

Traumatic Purpura

Inflammatory Disorders

Schönlein-Henoch Purpura

Cryoglobulins

15.2   Thrombophilic Diathesis

Clinical Approach

Hereditary Thrombophilia

Acquired Thrombophilia

Antiphospholipid Antibody Syndrome (APA Syndrome)

Myeloproliferative Diseases

Nephrotic Syndrome

Neoplastic Diseases

Heparin-Induced Thrombocytopenia (HIT)

15.3   Microcirculatory Disorders

Disseminated Intravascular Coagulation (DIC)

Thrombotic Thrombocytopenic Purpura (TTP) and Hemolytic-Uremic Syndrome (HUS)

16      Disorders of the Head and Neck

G.A. Spinas, P. Ott, and S.J. Stoeckli

16.1   Congenital Anomalies of the Neck

16.2   Inflammatory Disorders of the Neck

Acute Nonspecific Lymphadenitis

Specific Lymphadenitis

Chronic Lymphadenitis

Deep Neck Infections

16.3   Neck Masses

Benign Tumors

Malignant Tumors

16.4   Salivary Gland Diseases

Sialadenitis

Sialadenosis

Salivary Gland Neoplasms

16.5   Diseases of the Thyroid Gland

Thyroid Enlargement (Goiter)

Nontoxic Goiter

Thyroiditis

Subacute Thyroiditis

Chronic Autoimmune Thyroiditis (Hashimoto Thyroiditis)

Other Forms of Thyroiditis

Thyroid Nodules/Thyroid Cancer

Hyperthyroidism

Graves Disease

Toxic Adenoma (Plummer Disease)

Toxic Multinodular Goiter

Hypothyroidism

Neonatal Hypothyroidism

Acquired Hypothyroidism

16.6   Diseases of the Parathyroid Glands

17     Cough, Expectoration, and Shortness of Breath

E.W. Russi and K.E. Bloch

17.1   Cough

17.2   Expectoration

Hemoptysis

17.3   Dyspnea

Respiratory Failure

Obstructive Ventilatory Defects

Restrictive Ventilatory Defects

Pulmonary Dyspnea

Extrapulmonary Dyspnea

Cardiac Dyspnea

Diagnosis and Differential Diagnosis

Low O2 Content in the Ambient Air

Anemia

Metabolic Acidosis

Panic Reaction (Hyperventilation)

Diseases Characterized by Extrapulmonary Restriction

Respiratory Dysregulation

Diseases

Diseases of the Larynx and Trachea

Bronchial Asthma

Diagnosis and Clinical Findings

Specific Forms of Bronchial Asthma

Bronchitis

Acute Bronchitis

Chronic Bronchitis and Chronic Obstructive Pulmonary Disease (COPD)

Small Airway Diseases (Bronchioles)

Pulmonary Emphysema

Bronchiectasis

Cystic Fibrosis (Mucoviscidosis)

Primary Ciliary Dyskinesia

Common Variable Immunodeficiency Syndrome (CVID)

Allergic Bronchopulmonary Aspergillosis (APBA)

Obstructive Sleep Apnea Syndrome (OSAS)

18      Pulmonary Opacities

K.E. Bloch and E.W. Russi

18.1   Infectious Pulmonary Infiltrates (Pneumonias)

Bacterial Pneumonia

Classification

Clinical Presentation of Bacterial Pneumonias

Pneumonias Due to Gram-Positive Microorganisms

Pneumonias Due to Gram-Negative Bacteria and Microorganisms not Identifiable under Light Microscopy

Pneumonia Due to Multiple Gram-Positive and Gram-Negative Organisms (“Mixed Flora”)

Pulmonary Tuberculosis

Primary Tuberculosis

Postprimary Pulmonary Tuberculosis

Exudative Pulmonary Tuberculosis

Tuberculous Cavity

Miliary Tuberculosis

Fibroproliferative Tuberculosis

Tuberculoma

Disease Due to Mycobacteria Other Than Tuberculosis (MOTT)

Viral Pneumonia

Influenza Pneumonia

Adenovirus Pneumonia

Severe Acute Respiratory Syndrome (SARS)

Hantavirus Pneumonia

Pneumonia Due to Nonpneumotropic Viruses

Fungal Pneumonia

Fungus Infection in Immunocompromised Patients

Pneumonia Due to Yeasts and Molds

Pneumocystis carinii Pneumonia

Endemic Fungal Infection

Allergic Bronchopulmonary Aspergillosis and Mycetoma

Pulmonary Parasitosis

18.2   Noninfectious Pulmonary Infiltrates

Physical or Chemical Pneumonitis

Radiation Pneumonitis

Lipoid Pneumonia

Infiltrates Due to Chronic Congestive Heart Failure

Pulmonary Infarction-Infarction Pneumonia

Pneumonia Associated with Bronchiectasis

Pneumonia Due to Bacterial Superinfection

Chronic Pneumonia

Other Noninfectious Pulmonary Infiltrates

18.3   Eosinophilic Pulmonary Infiltrates

Transient Eosinophilic Pulmonary Infiltrates (Löffler)

Pulmonary Eosinophilia with Parasitosis and Tropical Pulmonary Eosinophilia

Allergic Bronchopulmonary Aspergillosis (ABPA)

Drug-Induced Pulmonary Eosinophilia

Acute Eosinophilic Pneumonia

Chronic Eosinophilic Pneumonia

Eosinophilic Infiltrates with Asthma

Allergic Granulomatosis and Angiitis (Churg-Strauss Syndrome)

Hypereosinophilic Syndrome

Diagnostic Criteria

18.4   Diffuse Parenchymal Lung Disease (DPLD)/Pulmonary Fibrosis

Idiopathic Interstitial Pneumonia

Idiopathic Pulmonary Fibrosis (IPF)

Nonspecific Interstitial Pneumonia (NSIP)

Cryptogenic Organizing Pneumonia (Idiopathic Bronchiolitis Obliterans Organizing Pneumonia [BOOP])

Acute Interstitial Pneumonia (AIP, Hamman-Rich Syndrome)

Respiratory Bronchiolitis-Associated Interstitial Lung Disease (RB-ILD)

Desquamative Interstitial Pneumonia (DIP)

Lymphoid Interstitial Pneumonia (LIP)

Interstitial Pneumonia in Association with Collagen Vascular Disease

Toxic and Drug-Induced Interstitial Pneumonia

Extrinsic Allergic Alveolitis (Hypersensitivity Pneumonitis)

Pneumoconiosis

Silicosis

Silicatosis and Other Pneumoconioses

Diffuse Granulomatous Pulmonary Diseases

Other Diffuse Parenchymal Lung Diseases and Orphan Lung Diseases

Alveolar Cell Carcinoma, Bronchoalveolar Cell Carcinoma, and Pulmonary Adenomatosis

Lymphangiosis Carcinomatosa

Kaposi Sarcoma

Pulmonary Hemosiderosis

Goodpasture Syndrome

Antiphospholipid Syndrome

Pulmonary Alveolar Proteinosis (PAP)

Microlithiasis Alveolaris

Langerhans Cell Histiocytosis

Lymphangioleiomyomatosis (LAM)

Formation of Cysts and Honeycombing

18.5   Pulmonary Nodules

Solitary Pulmonary Nodules

Malignant Neoplasms

Benign Tumors

Inflammatory Pulmonary Nodules

Tuberculoma

Echinococcosis

Pulmonary Nodules of Various Etiology

Multiple Pulmonary Nodules

Metastasis

Wegener Granulomatosis

Arteriovenous Aneurysms

18.6   Cavernous and Cystic Lung Diseases

Tuberculous Cavitary Lesion

Pulmonary Abscess

Pulmonary Abscess Due to Aspiration

Pulmonary Abscess Formation as a Complication of Bacterial Pneumonia

Metastatic Lung Abscess

Lung Cysts

Cavernous and Cystic Lesions of Various Etiologies

18.7   Atelectasis

18.8   Middle Lobe Syndrome

18.9   Opacities in the Cardiophrenic Angle

Cysts and Hernias

Lung Sequestration

19      Enlargement of the Hilum

E.W. Russi and K.E. Bloch

19.1   Bilateral Hilar Enlargement

Pulmonary Congestion

Hilar Enlargement Caused by Dilated Pulmonary Arteries

Sarcoidosis (Boeck Disease)

Manifestation of Sarcoidosis in Other Organs

Acute Sarcoidosis (Löfgren Syndrome)

Diagnosis of Sarcoidosis

Malignancies

Hodgkin and Non-Hodgkin Lymphomas

Leukemia

Hilar Lymph Node Enlargement in Other Diseases

19.2   Unilateral Lymph Node Enlargement

Lung Cancer

Carcinoid (Neuroendocrine Cancer)

Benign Tumors

Hilar Lymph Node Tuberculosis

19.3   Widening of the Mediastinum

Mediastinal Tumors

Intrathoracic Goiter

Mediastinal Inflammations

Rare Etiologies of Mediastinal Diseases

20      Dyspnea Due to Cardiovascular Diseases

F.R. Eberli

20.1   Differential Diagnostic Criteria

Information Derived from the History and Symptoms

ECG and Chest Radiograph

Laboratory Tests

Heart Failure as a Cause of Dyspnea

20.2   Symptoms of Heart Failure and Other Cardiac Diseases

Dyspnea

Signs of Venous Congestion

General Symptoms

20.3   Clinical Examination and Findings

General Physical Examination

Pulse

Volume Status

Perfusion Status

Rales, Expiratory Wheeze

Cardiac Examination

Inspection and Palpation

Systematic Auscultation

20.4   Diagnostic Studies

Laboratory Tests

ECG

Chest Radiograph

Echocardiography

Doppler Echocardiography

Transesophageal Echocardiography

Contrast Echocardiography

Intracardiac Echocardiography

Computed Tomography (CT)

Magnetic Resonance Imaging (MRI)

Stress Testing

Cardiac Catheterization

20.5   Acute Heart Failure

Pulmonary Edema and Cardiogenic Shock

Pulmonary Edema

Cardiogenic Shock

20.6   Chronic Heart Failure

20.7   Causes of Heart Failure

Differential Diagnosis of Heart Failure Due to Pressure Overload

Basic Pathophysiologic Concepts

Arterial Hypertension

Pulmonary Hypertension

Aortic Stenosis

Pulmonic Stenosis

Differential Diagnosis of Heart Failure Due to Volume Overload

Basic Pathophysiologic Concepts

Acute Aortic Insufficiency

Chronic Aortic Insufficiency

Acute Mitral Insufficiency

Chronic Mitral Insufficiency

Mitral Valve Prolapse

Tricuspid Insufficiency

Pulmonary Insufficiency

High Output Heart Failure

Differential Diagnosis of Heart Failure Due to Impaired Ventricular Filling

Basic Pathophysiologic Concepts

Mitral Stenosis

Atrial Myxoma

Tricuspid Stenosis

Pericardial Tamponade

Constrictive Pericarditis

Definition and Classification of Cardio-myopathies

Hypertrophic Cardiomyopathy

Restrictive Cardiomyopathy

Causes of Restrictive Cardiomyopathy

Differential Diagnosis of Heart Failure Due to Impaired Contractile Function

Dilated Cardiomyopathy

Causes of Dilated Cardiomyopathy

Differential Diagnosis of Dilated Cardio-myopathy

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Isolated Noncompaction of the Left Ventricle

Myocarditis

Giant Cell Myocarditis

Ischemic Cardiomyopathy

Differential Diagnosis of Heart Failure Due to Cardiac Arrhythmias

Tachycardia-Induced Cardiomyopathy

Bradycardia-Induced Cardiomyopathy

21      Cyanosis

E. Oechslin

21.1   Hemoglobin Cyanosis

Central Cyanosis

Clinical Examination

Diagnostic Studies

Cardiac Cyanosis

Conotruncal Anomalies

Tetralogy of Fallot

Common Arterial Trunk

Pulmonary Atresia

Tricuspid Atresia

Transposition of the Great Arteries (TGA) with VSD

Complete Transposition of the Great Arteries (D-TGA)

Congenitally Corrected Transposition of the Great Arteries (L-TGA)

Atrioventricular Septal Defect (AVSD)

Double Inlet Ventricle

Aortopulmonary Connections

Ventricular Septal Defect (VSD)

Eisenmenger Syndrome

Atrial Septal Defect (ASD)

Congenital Heart Defect with Normal Pulmonary Vascularity and No Obstruction in the Pulmonary Outflow Tract: Ebstein Anomaly

Pulmonary Cyanosis

Chronic Pulmonary Cyanosis

Acute Pulmonary Cyanosis

Peripheral Cyanosis

Peripheral Cardiac Cyanosis

Peripheral Cyanosis in Blood Diseases

Peripheral Local Cyanosis

21.2   Hemiglobin Cyanosis

Methemoglobinemia

Hereditary Methemoglobinemia

Hemoglobinopathy M

NADPH Methemoglobin Reductase Deficiency

Low Oxygen Affinity Hemoglobins

Toxic Methemoglobinemia

Sulfhemoglobinemia

21.3   Pseudocyanosis

22      Arrhythmias

C. Scharf and F. Duru

22.1   Differential Diagnosis of Arrhythmias

Medical History

Clinical Examination

Electrocardiogram (ECG)

Additional Tools for the Diagnosis of Arrhythmias

22.2   Bradyarrhythmias

Sinus Node Dysfunction

Atrioventricular Block

First Degree AV Block

Second Degree AV Block

Third Degree AV Block

Differential Diagnosis of Vagotonic (Functional) Versus Organic AV Block

Bradyarrhythmias with Acute Myocardial Infarction

22.3   Junctional Rhythms

22.4   Extrasystoles

Supraventricular Extrasystoles

Ventricular Extrasystoles

22.5   Tachyarrhythmias

Narrow-Complex Tachycardia

Sinus Tachycardia

Atrial Tachycardia

Atrial Flutter

Atrial Fibrillation

AV Nodal Reentrant Tachycardia

AV Reentrant Tachycardia with Antegrade Conduction over the AV Node

Wide-Complex Tachycardia

AV Reentrant Tachycardia with Antegrade Conduction over the Accessory Pathway

Monomorphic Ventricular Tachycardia

Polymorphic Ventricular Tachycardia and Torsade de Pointes

Ventricular Fibrillation and Sudden Cardiac Death

Pacemaker-Mediated Tachycardia

ECG Artifact Mimicking Tachyarrhythmias

23      Systemic Arterial Hypertension

P. Greminger, C. Schmid, and R. Wuethrich

23.1   Diagnostic Management of Hypertension

Evaluation of Secondary Hypertension

Risk Assessment

23.2   Primary (Idiopathic) Hypertension

23.3   Secondary Hypertension

Renal Hypertension

Bilateral Renal Disease

Unilateral Renal Disease

Renovascular Hypertension

Endocrine Hypertension

Mineralocorticoid Hypertension

Primary Aldosteronism (Conn Syndrome)

Other Forms

Pheochromocytoma

Cushing Syndrome

ACTH-Dependent Cushing Syndrome

ACTH-Independent Cushing Syndrome

Acromegaly

Genetics of Hypertension and Rare Monogenetic Forms

Cardiovascular Hypertension

Coarctation of the Aorta

Hypertension Due to Increased Cardiac Output

Hypertension in Pregnancy

Toxic Agent-Induced and Drug-Induced Hypertension

24      Systemic Arterial Hypotension

P. Greminger, C. Schmid

24.1   Primary (Idiopathic) Hypotension

24.2   Secondary Hypotension

Endocrine Hypotension

Hypotension from Endocrine Disorders

Primary Adrenocortical Insufficiency (Addison Disease)

Secondary Adrenocortical and Anterior Pituitary Insufficiency

Disorders with Associated Endocrine Disturbances

Genetic Forms of Hypotension

Renal Hypotension

Cardiac Hypotension

Neurogenic Hypotension

Hypovolemic Hypotension

Toxic and Drug-Induced Hypotension

25      Jaundice

D. Moradpour and H.E. Blum

25.1   General Differential Diagnosis of Jaundice

Pathophysiology of Jaundice

Increased Bilirubin Production

Displacement of Bilirubin from Albumin Binding

Reduced Hepatic Bilirubin Uptake

Reduced Hepatic Bilirubin Storage

Impaired Glucuronidation of Bilirubin

Impaired Bilirubin Secretion

Clinical Classification of Jaundice

Clinical Symptoms

Laboratory Parameters

Hepatocellular Damage

Cholestasis

Urinary Findings

Immunoglobulins

Quantitative Liver Function Tests

Hepatocellular Synthesis

Tumor Markers

Autoantibodies

Hepatitis Serology

Imaging Techniques

Liver Biopsy

25.2   Special Differential Diagnosis of Jaundice

Isolated, Nonhemolytic Hyperbilirubinemias

Unconjugated Hyperbilirubinemias

Conjugated Hyperbilirubinemias

Viral Hepatitis

Hepatitis A

Hepatitis B

Hepatitis C

Hepatitis D

Hepatitis E

Other viruses

Autoimmune Hepatitis

Toxic and Drug-Induced Liver Diseases

Alcohol-Induced Liver Diseases

Alcoholic Fatty Liver

Alcohol-Induced Hepatitis

Alcohol-Induced Liver Cirrhosis

Liver cirrhosis

Ascites

Portal Hypertension

Liver Failure

Hepatic Encephalopathy

Hepatorenal Syndrome

Hepatopulmonary Syndrome

Metabolic Liver Disorders

Hemochromatosis

Wilson Disease

α1-Antitrypsin Deficiency

Hepatovenous Causes of Liver Diseases

Congested Liver

Budd-Chiari Syndrome

Veno-Occlusive Disease

Cholestatic Jaundice

Intrahepatic Cholestasis

Jaundice During Pregnancy

Postoperative Jaundice

Intrahepatic Cholestasis with Severe Infectious Diseases

Drug-Induced Cholestatic Liver Diseases

Primary Biliary Cirrhosis

Primary Sclerosing Cholangitis

Extrahepatic Cholestasis

Stone Obstruction

Tumor Obstruction

Other Causes of Obstructive Jaundice

Cholangitis

Space-Occupying Liver Lesions

Liver Tumors

Echinococcosis

Hepatic Abscesses

26      Dysphagia

M. Fried, M. Fox, and W. Schwizer

26.1   Structural Lesions

Esophageal Tumors

Mediastinal Conditions

Inflammatory Stenosis

Esophageal Membranes and Rings

Diverticulum

26.2   Esophageal Motility Disorders

Achalasia

Diffuse Esophageal Dysmotility

26.3   Mucosal Disease (Odynophagia)

Esophageal Ulceration

Esophagitis

27      Diarrhea

M. Fried, P. Bauerfeind, M. Fox, and B. Muellhaupt

27.1   Acute Diarrhea

General Considerations on Practical Management

Infectious and Parasitic Diarrheal Disease

Antibiotic-Associated Diarrhea (Pseudomembranous Colitis)

Diarrhea Caused by Toxins

27.2   Chronic Diarrhea

Diseases with Abnormal Findings on Endoscopy

Ulcerative Colitis

Venereal Diseases of the Anorectum

Ischemic (Entero)Colitis

Crohn Disease (Segmental Granulomatous Ileocolitis)

Gastrointestinal Tuberculosis

Malignant Small Bowel Tumors

Benign Small Bowel Tumors

Colorectal Carcinoma

Colorectal Polyps

Hereditary Colorectal Carcinoma

Diverticulosis and Diverticulitis

Diseases Without Abnormal Findings on Endoscopy

Lactase Deficiency

Psychogenic Diarrhea

Malassimilation (Maldigestion and Malabsorption)

Introduction

Primary Malabsorption

Celiac Disease (Endemic Sprue)

Tropical Sprue

Maldigestion and Secondary Malabsorption

Steatorrhea and Bile Acid Malabsorption

Whipple Disease

Small Bowel Bacterial Overgrowth (SBO)

Short Bowel Syndrome

Intestinal Lymphangiectasia

Endocrine and Hormonal Causes of Diarrhea

Endocrine Disease

Hormone-Secreting Tumors

Carcinoid Syndrome

Verner-Morrison Syndrome (VIPoma)

28      Constipation

M. Fried, M. Fox, and M. Thumshirn

28.1   Acute Constipation

28.2   Chronic Constipation

28.3   Temporary Constipation

28.4   Anorectal Dysfunction

28.5   Megacolon and Megarectum

29      Abnormal Renal Function

R.P. Wuethrich and H.-P. Marti

29.1   Symptoms and Signs of Altered Renal Function

Serologic Examinations

Evaluation and Measurement of the Glomerular Filtration Rate

29.2   Differential Diagnosis of Pathologic Urine Findings

Collection and Processing of Urine Samples

Physical Urine Analysis

Color of Urine

pH of Urine

Urine Volume

Specific Gravity and Osmolality

Chemical Urine Analysis

Glucosuria

Ketonuria

Proteinuria

Identification of Bilirubin and Urobi-linogen in Urine

Identification of Nitrite for the Diagnosis of Urinary Tract Infections

Microscopic Analysis of the Urinary Sediment

Erythrocytes

Leukocytes

Epithelial Cells

Casts

Crystals

29.3   Differential Diagnosis of Reduced Glomerular Filtration Rate

Acute Renal Failure (ARF)

Prerenal Kidney Failure

Postrenal Kidney Failure by Obstruction

Intrarenal Kidney Failure

Acute Tubular Necrosis (ATN)

Diagnostic Procedure and Differential Diagnosis of ARF

Chronic Renal Failure (CRF)

Clinical Characteristics of Chronic Renal Failure (CRF)

General Symptoms

Hematologic Changes

Cardiovascular Manifestations

Neurologic and Muscular Changes

Dermatologic Manifestations

Renal Osteodystrophy

Gastrointestinal Symptoms

Malnutrition

Disturbances of the Water, Electrolyte, and Acid-Base Balance

Infections

Malignancies

29.4   Differential Diagnosis of Nephrologic Syndromes

Glomerular Syndromes and Glomerulopathies

Acute Nephritic Syndrome

Poststreptococcal Glomerulonephritis as Paradigmatic Example of Acute Nephritic Syndrome

Membranoproliferative Glomerulo-nephritides

Henoch-Schönlein Purpura

Nephrotic Syndrome

Minimal-Change Glomerulonephritis

Focal Segmental Glomerulosclerosis (FSGS)

Membranous Glomerulonephritis

Diabetic Nephropathy

Rapidly Progressive Glomerulonephritis (RPGN)

Wegener Disease

Microscopic Polyangiitis

Churg-Strauss Syndrome

Panarteritis Nodosa (PAN)

Goodpasture Syndrome

Asymptomatic Urinary Abnormalities

IgA Nephropathy

Congenital Diseases with Hematuria

Chronic Glomerulonephritis

Tubulointerstitial Nephritides (TIN)

Acute Tubulointerstitial Nephritis

Chronic Interstitial Nephritis

Analgesic Nephropathy

Chronic Pyelonephritis

Radiation Nephritis

Balkan Nephritis

Urinary Tract Syndromes

Infections of the Urinary Tract

Obstruction of the Urinary Tract

Hydronephrosis

Nephrolithiasis and Nephrocalcinosis

Differential Diagnosis of Pathologic Sonography Findings

Cystic Renal Diseases

Polycystic Kidney Diseases

Renal Tumors

30      Water, Electrolyte, and Acid-Base Disorders

T. Fehr and R.P. Wuethrich

30.1   Disorders of Sodium and Water Homeostasis

Physiologic Principles

Fluid Compartments

Principles of Osmoregulation

Principles of Volume Regulation

Disorders of Volume Homeostasis (Extracellular Volume Contraction and Expansion)

Definition, Diagnosis, and Clinical Features

Extracellular Volume Contraction (with Primarily Normal Serum Sodium)

Extracellular Volume Expansion (with Primarily Normal Serum Sodium)

Disorders of Water Homeostasis and Osmoreg-ulation (Hyponatremia and Hypernatremia)

Definition, Diagnosis, and Clinical Features

Hyponatremia (PNa< 135 mmol/L)

Hypovolemic Hyponatremia

Euvolemic Hyponatremia

Hypervolemic Hyponatremia

Hypernatremia (PNa > 145 mmol/L)

Hypovolemic Hypernatremia

Euvolemic Hypernatremia

Hypervolemic Hypernatremia

30.2   Disorders of Potassium Homeostasis

Physiologic Principles

Potassium Distribution and Internal Potassium Balance

Potassium Excretion and External Potassium Balance

Steroid Biosynthesis

Hypokalemia and Hyperkalemia

Definition, Diagnosis, and Clinical Features

Hypokalemia (PK < 3.5 mmol/L)

Hypokalemia Due to Reduced Potassium Intake

Hypokalemia Due to Transcellular Shifts (Disorders of Internal Balance)

Hypokalemia Due to Enhanced Potassium Loss

Hyperkalemia (PK > 5.0 mmol/L)

Hyperkalemia Due to Excessive Potassium Intake

Hyperkalemia Due to Transcellular Shifts (Disorders of Internal Balance)

Hyperkalemia Due to Reduced Potassium Excretion

30.3   Disorders of Acid-Base Homeostasis

Physiologic Principles

Basics of Acid-Base Metabolism

Levels of Acid-Base Regulation

Regulation of Renal Acid Excretion

Acidosis and Alkalosis

Definition, Diagnosis, and Clinical Features

Metabolic Acidosis

Pathogenesis and Use of the Serum Anion Gap (SAG)

Normochloremic Metabolic Acidosis (with Increased SAG)

Hyperchloremic Metabolic Acidosis (with Normal SAG)

Metabolic Alkalosis

Pathogenesis and Importance of the Urine Chloride Concentration

Chloride-Sensitive Metabolic Alkaloses

Chloride-Resistant Metabolic Alkaloses

Metabolic Alkalosis via Exogenous Alkali Intake

Respiratory Acidosis

Acute and Chronic Disorders

Differential Diagnosis of Respiratory Acidosis

Respiratory Alkalosis

Acute and Chronic Disorders

Differential Diagnosis of Respiration Alkalosis

30.4   Disorders of Calcium, Phosphate, and Magnesium Homeostasis

Physiologic Principles

Particular Properties of Calcium, Phosphate, and Magnesium

Regulation of Calcium and Phosphate Homeostasis

Disorders of Calcium Homeostasis

Definition, Diagnosis, and Clinical Features

Hypocalcemia (PCa < 2.1 mmol/L)

Hypoparathyroid Status

Vitamin D Deficiency

Calcium Sequestration in Bones and Tissues

Renal Calcium Loss

Hypercalcemia (PCa > 2.6 mmol/L)

Hyperparathyroid Status

Vitamin D Excess

Increased Bone Resorption

Renal Calcium Retention

Other Causes

Disorders of Phosphate Homeostasis

Definition, Diagnosis, and Clinical Features

Hypophosphatemia (PPO43-< 1 mmol/L)

Hyperparathyroid Status

Reduced Intestinal Absorption of Vitamin D and PO43-

Transcellular PO43- Shifts

Renal Phosphate Loss

Renal Phosphate Loss

Hyperphosphatemia (PPO43- > 1.5 mmol/L)

Hypoparathyroid Status

Increased Intestinal Absorption of PO43- or Vitamin D

Transcellular PO43- Shifts

Renal Phosphate Retention

Disorders of Magnesium Homeostasis

Definition, Diagnosis, and Clinical Features

Hypomagnesemia (PMg< 0.7 mmol/L)

Reduced Intake

Transcellular Magnesium Shifts

Extrarenal Magnesium Loss

Renal Magnesium Loss

Hypermagnesemia (PMg >1.2 mmol/L)

Increased Intake

Transcellular Magnesium Shifts

Renal Magnesium Retention

31      Vertigo and Syncopal Conditions

U. Schwarz, C. Scharf, and P. Greminger

Vertigo, Impaired Consciousness, and Syncope: An Overview

31.1   Medical History of the Vertigo Patient

Nature of Vertigo

Duration of Vertigo

Onset of Vertigo

31.2   Differential Diagnosis of Oculomotor Disorders

Paresis of the Nerves to the Ocular Muscles

Supranuclear Gaze Paresis

Saccades

Nystagmus and Ocular Tilt Reaction

31.3   Physiologic Stimulus-Induced Vertigo

Motion Sickness

Height Vertigo

31.4   Peripheral Vestibular Vertigo

Benign Paroxysmal Positioning Vertigo (BPPV)

Acute Unilateral Partial Deficit of the Vestibular Nerve (Vestibular Neuritis)

Ménière Disease

Vascular Compression of the Vestibular Nerve

Perilymph Fistula

Bilateral Vestibulopathy

Traumatic Vertigo

31.5   Central Vestibular Vertigo

Cerebral Causes

Basilar Migraine

Vestibular Migraine

Vestibular Epilepsy

Proprioceptive and Multisensory Vertigo

Paroxysmal Dysarthrophonia and Ataxia

Psychogenic Vertigo

Phobic Swaying Vertigo

31.6   Diagnostic Evaluation of Syncope

31.7   Cardiac Syncope

Bradyarrhythmias

Tachyarrhythmias

Tachyarrhythmias in the Setting of Structural Cardiac Disease

Tachyarrhythmias without Structural Cardiac Disease

Emptying Disorders of the Left Ventricle

Filling Disorders of the Left Ventricle

31.8   Vascular Syncope

Reflex Vascular Causes

Vasovagal (= Neurocardiogenic) Syncope

Pressor-Postpressor Syncope

Carotid Sinus Syndrome

Orthostatic Dysregulation

Neurogenic Syncope

Organic Vascular Causes (Cerebrovascular Causes)

Transient Ischemic Attacks (TIA)

Aortic Arch Syndrome

Arterial Emboli

Subclavian Steal Syndrome

31.9   Cerebral Syncope

Cerebral Seizures and Epilepsy

Pathogenesis and Terminology

Classification and Clinical Features of Types of Epilepsy

Focal Seizures

Generalized Seizures

Special Seizure Types

Diagnosis and Differential Diagnosis

Narcolepsy

Eclampsia

Abnormal Mental Status Due to a Behavioral Disorder

32      Coma and Other Disturbances of Consciousness

C.L. Bassetti, P. Greminger, H. Kupferschmidt, and G. Spinas

32.1   Consciousness: Definition

Disturbances of Consciousness: Pathophysiology

Disturbances of Consciousness: Clinical Features

Somnolence, Sopor, and Coma (Quantitative Disturbances of Consciousness)

Acute Confusional State and Other Qualitative Disturbances of Consciousness

Disturbances of Consciousness: Clinical Examination, Signs, and Symptoms

Respiration

Vigilance, Attention, and Mental State

Eyes

Motor Functions

32.2   Coma with Primarily Cerebral Causes

Diffuse (or Multifocal) Diseases/Lesions of the Central Nervous System

Diseases with Positive Neuroimaging

Diseases with (Mostly) Negative Neuroimaging

Focal Diseases/Lesions of the Central Nervous System

Ischemic Stroke

Intracerebral Hemorrhage

Traumatic Brain Injury

Neoplasias

Cerebral Abscess

32.3   Psychogenic Coma

32.4   Coma Due to Metabolic Disorders

Hypoglycemic Coma

Patients with Diabetes Mellitus

Patients without Diabetes Mellitus

Reactive Postprandial Hypoglycemia

Fasting Hypoglycemia

Other Causes of Hypoglycemia

Diabetic Coma

Ketoacidotic Coma

Hyperglycemic Hyperosmolar Nonketotic Coma

Coma Due to Lactic Acidosis

Other Types of Metabolic Coma

Hepatic Coma

Uremic Coma

Coma Due to Adrenal Insufficiency

Coma Due to Pituitary Insufficiency

Myxedema Coma

Coma Due to Vitamin B1 (Thiamine) Deficiency, i. e., Wernicke Encephalopathy

Coma in Hyperviscosity Syndrome (Paraproteinemic Coma)

Coma in Severe Systemic Illness

Coma Due to Disturbances of Fluid, Electrolyte, and Acid-Base Homeostasis

32.5   Intoxication-Induced Coma

Illicit Drugs

Sedatives and Hypnotics

Drugs Acting on the Central Nervous System

Anticholinergics

Analgesics and Antipyretics

Alcohols

Solvents

Carbon Monoxide

Cyanides and Hydrogen Sulfide

32.6   Hypersomnia and Excessive Tendency to Fall Asleep/Daytime Sleepiness

Narcolepsy

Other Hypersomnias

33      Differential Diagnosis of Laboratory Test Results

A. von Eckardstein

33.1   Introduction

33.2   Laboratory Parameters

Acid-Base Balance

Albumin

Aldosterone

Alkaline Phosphatase (AP)

α-Fetoprotein (AFP)

Aminotransferases (Transaminases: ALT/GPT and AST/GOT)

Ammonia

Amylase and Pancreatic Amylase

Anion Gap

Antineutrophil Cytoplasmic Antibodies (ANCA)

Antinuclear Antibodies (ANA)

Bicarbonate

Bilirubin

Blood Count

Brain Natriuretic Peptide (BNP), NT-Pro-Brain Natriuretic Peptide (NT-proBNP)

CA 15-3

CA 19-9

CA-125

Calcium

Chloride

Carcinoembryonic Antigen (CEA)

Cholesterol

Cholinesterase (ChE)

Complement C3 and C4

Copper

Cortisol

C-Peptide and Insulin

C-Reactive Protein (CRP)

Creatine Kinase (CK and CK-MB)

Creatinine

D-Dimers

Erythrocytes

Ferritin

Fibrinogen

Folic Acid

Follicle Stimulating Hormone (FSH)

Gamma-Glutamyl Transpeptidase (GGTP)

Glucose

Gonadotropins

Haptoglobin

HDL Cholesterol

Hematocrit

Hemoglobin

Homocysteine

Human Chorionic Gonadotropin (HCG)

Immunoglobulins A, G, and M

Immunoglobulin E

Iron

Lactate

Lactate Dehydrogenase

LDL Cholesterol

Leukocytes

Lipase

Lipid Profile

Luteinizing Hormone (LH)

Magnesium

Myoglobin

Osmolality and Osmotic Gap

Oxygen (Oxygen Partial Pressure [PO2]; Oxygen Saturation [SO2]; Oxyhemoglobin Fraction [FHbO2]; Oxygen Content [CtO2])

Parathyroid Hormone (PTH) (Intact PTH, iPTH)

(Activated) Partial Thromboplastin Time (PTT, aPTT)

PCO2

pH

Phosphate

PO2

Potassium

Procalcitonin

Prolactin

Prostate-Specific Antigen (PSA; Free, Total)

Protein (Total)

Protein Electrophoresis

Quick Test (Prothrombin Time [PT]; Thrombo-plastin Time; International Normalized Ratio [INR])

Renin

Rheumatoid Factor (RF)

Selenium

Sodium

Testosterone

Thrombocytes

Thyrotropin, Thyroid Stimulating Hormone (TSH)

Thyroxine, Triiodothyronine (Free and Total; fT3, T3), Tetraiodothyronine (Free and Total; fT4, T4)

Transaminases

Transferrin Saturation

Triglycerides

Troponin I and Troponin T

Urea

Uric Acid

Urinalysis

Urinary Sediment

Vitamin B12 (Cobalamin)

Zinc

Index

1.1Elements of the Differential Diagnosis

Disease and Differential Diagnosis

Practical Procedure for Establishing a Diagnosis

Correct Evaluation of Evident Findings and the Differential Diagnosis

How to Handle Errors in the Medical Field

Factors That Can Lead to False Diagnoses

Physician-specific Problems

Patient-specific Problems

1.2Factors That Can Influence the Differential Diagnostic Thought Process

Prevalence of Diseases

Age

Gender

Lifestyle

Eating Habits

Season, Time of Day, and Weather

Geographic Distribution

Ethnic Groups

Profession and Leisure

Precluding or Promoting Diseases

1.3Differential Diagnosis by Groups of Diseases

Degenerative Conditions

Infectious Diseases

Immune Mediated Diseases

Tumors

Metabolic Diseases

Dysfunction of the Endocrine System

Mental Disorders

Hereditary Diseases

Chromosome Anomalies

Simple Mendelian Genetics

Multifactorial Heredity

Allergies

Intoxications

1.1  Elements of the Differential Diagnosis

Disease and Differential Diagnosis

Decision-making on the Basis of Diagnosis. The physician endeavors to organize the subjective complaints and the objective findings of a patient in order to receive further indications to proceed (διαγιγνώσχω: to examine, to carefully consider, to differentiate, to become distinctively acquainted with, to decide). This approach is frequently chosen because a diagnosis in the conventional sense is not always easy to make, as more than one diagnosis can often be possible at the same time. Therefore, an important first step is to create a list of problems with a detailed description.

Dynamics of Reaching a Diagnosis. The diagnosis is of utmost importance not only for the prognosis but also for the introduction of an appropriate therapy. An established diagnosis always needs to be reassessed. Secondary diseases, complications, and side-effects can supervene. Each diagnosis continues to be a differential diagnosis, since the particular symptoms, even during the course of a disease, have to be continually reevaluated, carefully considered, and differentiated. For a proper evaluation of the symptoms and risk factors, knowledge of their clinical meaning is crucial. Consequently, the purpose of differential diagnosis is to point out what diseases can occur, when specific symptoms appear, and what risk factors with the utmost probability accompany specific diseases. In most cases, there are numerous possibilities and additional factors (frequency of disease, patient’s age, secondary symptoms) that have to be taken into account. Exclusively listing all the possibilities would not be beneficial.

Typical clinical pictures are not as frequent because of early detection of many diseases and appropriate therapies. The typical course of diseases has also become less frequent. In addition, one has to allow for biological variability.

Etiology and Course. Different aspects must be considered in order to judge a clinical picture. The study of the causes of disease, the etiology, has eclipsed the approach of nosology even in terms of therapeutic measures. Therefore the nosological entity “pneumonia” only describes a complexity of symptoms and starting point for the purpose of etiological differentiation (e. g., pneumococci, mycoplasma, chlamydiae, legionellae, viruses). Depending on the immunity and age of a patient, the course of the disease can be different even with identical pathogens, e. g., drastically different complication rates. Another example is that specific microorganisms may lead to so-called opportunistic infections in immunosuppressed patients, whereas in immunocompetent patients they do not. Where a patient is in fact examined (private practice, outpatient clinic, emergency department) also plays a significant role for the differential diagnosis.

Pathogenesis. The knowledge of pathogenesis must suffice in many cases in order to define a clinical picture. Pathogenic differentiation of various forms of hypertension is necessary for therapeutic and prognostic reasons. Despite research in etiology and pathophysiology we often proceed in a descriptive manner.

Criteria, Scores, Algorithms. Diagnoses as conceptual entities and bases for therapeutic measures are partially replaced by a system of criteria, which automatically leads to the next diagnostic or therapeutic step. This procedure is absolutely essential in specific situations, such as in emergency and intensive care medicine. Therefore, apnea requires immediate artificial respiration independent from etiology and pathogenesis. The identification of apnea is not a diagnosis in the narrower sense, but a state that calls for a certain therapeutic action.

Triage Decisions, Emergency Situations. Most triage decisions are not based on a definite diagnosis. Experienced general practitioners make split-second judgements based on posture, gait, facial expression, expression of the eyes, eye contact, circumstances including attire and accompanying persons, calm or uneasy appearance, perspiration, facial color, as well as breathing, and any changes in known patients. Medical split-second judgements are correct in more than 64% of cases (Tab. 1.1). The clinical initial evaluation incorporates the very first visual, auditive, olfactory, affective, and intuitive impressions.

Judgements based on an evaluation made in a few minutes are very often correct. However, they must also be reassessed and adjusted according to the dynamic of the disease.

The emergency evaluation plays an important role in the medical field. The evaluation of vital signs such as temperature, respiratory rate, blood pressure, and pulse is essential. It may be necessary to observe the patient for several hours in order to make the correct triage decision concerning hospitalization. The criteria for nonemergency situations are summarized in Tab. 1.2. Impaired consciousness and suicidal tendency are among high-risk criteria.

Verification of Diagnosis. Establishing an accurate diagnosis is usually an essential prerequisite for treatment of a patient. In order to continually reassess a diagnosis, the physician is obliged to maintain a self-critical attitude, e. g., in order to reexamine the effect of an adopted therapeutic regimen. This is especially important when increasingly “atypical” progression occurs or the chosen therapy is ineffective. Pattern recognition is essential to diagnostic reasoning.

Diagnosis and Individual Expression of Disease. The picture of a disease is one-sided and incomplete unless the symptoms are coupled with the ill person. Each person molds the disease and its expression by his or her individualism. A must for the physician is to respect the patient’s experience in terms of perception of the disease. Specific perceptions can be the key to the diagnosis. Only when patients feel they are being understood can they be persuaded to go through stressful diagnostic processes (“shared decision-making”). Hence, the physician must comprehend the uniqueness of a patient’s disease. The possibility that a patient called on him/her because of a so-called “hidden agenda” must also be borne in mind (see Chapter 2).

Diagnosis and Therapeutic Consequences. It is the job of the physician to take responsibility concerning the correct preliminary measures for each patient. The patient is entitled to interpret the disease in such a way that it correlates with personal circumstances. In view of multiple modern diagnostic methods and increasing healthcare costs, one is forced to carefully consider whether or not the effort in examining the patient and the patient’s stressful situation is to be followed by therapeutic consequences.

Table 1.2   Criteria for a nonemergency situation are normal vital signs and absence of a high risk indicator

1. Normal vital signs

2. None of the following high risk factors

Temperature 35–38.5°C

Respiratory rate 12–20/min

Blood pressure 90/60-160/110 mmHg

Pulse rate 60–100/min

Severe pain

Chest or abdominal pain

Younger than 16 years

Unable to walk or arrival by ambulance

Impaired consciousness

Suicidal tedency

Individually Adapted Diagnosis. A differential diagnosis indicates only the components which are needed by a physician in order to arrive at the individually adapted diagnosis for a particular case. Obtaining an overall picture of the patient’s state of health is only possible through a combination of thorough medical knowledge and appropriate attention to the patient.

Risk Factors. In the past two decades knowledge of diagnosis, and especially risk factors, has drastically changed. Nevertheless, risk factors are frequently not recognized during hospitalizations or are not treated with priority (blood pressure, cholesterol, smoking, sedentary behavior). These risk factors, however, are essential in terms of long-term prognosis, such as in coronary heart disease.

Practical Procedure for Establishing a Diagnosis

The diagnosis is based on four essential aspects:

medical history

state of health

laboratory and other investigations

monitoring.

In case of an unsolved disease, the number of possible remaining diagnoses can be reduced drastically via history-taking and clinical examination. The additional morphological, physical, chemical, and biological examinations allow the isolation of the most probable diagnosis. Monitoring is a critical quality control of the previous diagnostic process, as well as of the subsequent therapeutic decisions.

History. Clinical experience plays an important role when collecting medical history data. The initial conversation between a patient and a physician gives the opportunity to obtain a general idea of the patient’s personality, the kind of disease, and the degree of severity.

Despite the availability of laboratory and diagnostic devices, the medical history is still the most important part of the diagnostic process. If time limits the medical history (e. g., in case of an emergency), it must be done in detail thereafter. Accordingly, sufficient time must be allocated for the medical history when patients are examined. In the age of electronic medical histories, it is important to critically review patients’ records. Especially with more complex clinical problems and multimorbidity the history is the key to initiate appropriate diagnostic studies and therapies.

Thoroughly questioning the patient often shows that previous examinations may have focused only on specific organs. The findings may never have been examined within the scope of an overall evaluation.

Health Status (Physical Examination). The health status of a patient can be without pathological findings, even in cases of serious (nonsurgical) diseases. A careful examination of the patient, in calm surroundings, supplies the expert with important information and satisfies the patient’s expectations. In patients with acute intermittent findings (e. g., pericardial friction rub, mild exanthems, signs of paralysis in early stage of myasthenia, paroxysmal arrhythmias, evening ankle edema, nocturnal pulmonary edema, etc.), an attempt should be made to examine the patient when the symptoms are present.

Examinations Involving Laboratory Analysis and Apparatus. In recent years, special laboratory techniques have greatly contributed to diagnostic procedures, e. g., D-Dimer (thrombosis), troponin (myocardial infarction), or brain natriuretic peptide (BNP) (heart failure) analysis. Despite the availability of these tests, the past medical history still represents a vital part of the diagnosis. In patients with sepsis, for example, the BNP value can be elevated. Therefore, it is important to know the specificity and sensitivity in laboratory workups. Imaging studies have also become more important. The computed tomography (CT) scan is one of the most important tools in case of a fever of unknown origin. Nevertheless, it is important not only to know the strengths, but also the limitations of any examination equipment. For example, transthoracic echocardiography with normal findings cannot rule out pathology of the mitral valves.

Monitoring. Monitoring is another important diagnostic element. A diagnosis must always be reevaluated with regard to its certainty, e. g., on every ward round or consultation the status of the main symptoms should be considered: do they remain identical?

A diagnosis is therefore always preliminary—differential diagnostic thinking is an ongoing process.

Cardinal Symptoms. In differential diagnosis we proceed from a single dominant symptom, or group of symptoms (syndromes) or main symptoms, and try to classify as much as possible on the basis of the current research, in order to obtain a clinical picture. In most cases, a differential diagnosis is considered when a cardinal symptom indicates the direction of further measures. This leading symptom can emerge from the medical history (e. g., symptomatic epigastric pain), from clinical findings (e. g., enlargement of the spleen), as well as from laboratory work results (e. g., blood tests). So-called problem-oriented patient care is practiced in a similar manner. The aim of this book is to analyze the most common leading symptoms. Patients need to be presented, whether on ward rounds or when in conference, with these in mind.

Case Report. A clear clinical thought process becomes evident during the case presentation or when a second opinion is consulted. A good case report is essential and must be clearly structured.

In the first sentence, the following must be mentioned: name, age, situation (emergency, referral, check up, etc.), the chief complaint(s) (what is the current problem or in case of multiple symptoms, what do both doctor and patient view as being the main problem).

Only at this point should the present disease be discussed with regard to the details (e. g., characteristics of the pain), followed by the personal history, systemic history, medication, psycho-social history, etc. Too often, a case report starts with a detailed description of the present disease and its symptoms, which may have begun weeks or months ago, and thus cannot be classified.

Correct Evaluation of Evident Findings and the Differential Diagnosis

Process of Clinical Judgement. The correct evaluation of findings is crucial for the diagnosis. Positive and negative predictive values play important roles in this context. Nevertheless, personal intuition with regard to the individual patient remains an important factor.

Pathognomonic symptoms or combinations of symptoms are rare, but must be recognized when present. Except in the most obvious cases, we are subject to continuous uncertainty in everyday clinical life—we must use the available resources to decide on the most probable diagnosis for our individual patients and select the most effective treatment. It is assumed that with additional clinical experience the correct clinical judgement will automatically be made. In this we are supported by studies that critically analyze individual investigative steps and diagnostic processes. Guidelines which critically assess current research and place it in context are often helpful (“critical appraisal”).

Probability-based Decision Analysis. In cases of ambiguous and usually complex situations, the physician can decrease the probability of error when diagnosing or excluding a disease using reasoning based on decision analysis. He or she analyses the probability of a disease diagnosis on the basis of the findings (post-test probability), whereby both the sensitivity (probability of test being positive when disease is present) and specificity (probability of test being negative when disease is not present) of the test must be given, as well as considering the pretest probability (current probability). The pretest probability is a crucial parameter.

Evidence-based Medicine.