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Essentials of
Human Diseases
and Conditions
This page intentionally left blank
 Fifth Edition

Essentials of
Human Diseases
and Conditions
Margaret Schell Frazier, RN, CMA (AAMA), BS
Retired
Former Chair, Health and Human Services Division
Program Chair, Medical Assisting Program
Ivy Tech State College, Northeast
Fort Wayne, Indiana
Presently
President/Consultant/Author, M & M Consulting
Hudson, Indiana
Assistant to Co-Directors
Faith Community Health Clinic
Angola, Indiana

Jeanette Wist Drzymkowski, RN, BS

Formerly
Associate Faculty
Ivy Tech State College, Northeast
Fort Wayne, Indiana
Presently
Author
Laguna Niguel, California
3251 Riverport Lane
St. Louis, Missouri 63043

ESSENTIALS OF HUMAN DISEASES AND CONDITIONS, FIFTH EDITION ISBN: 978-1-4377-2408-0

Copyright © 2013, 2009, 2004, 2000, 1996 by Saunders, an imprint of Elsevier Inc.

No part of this publication may be reproduced or transmitted in any form or by any means, electronic or
mechanical, including photocopying, recording, or any information storage and retrieval system, without
permission in writing from the publisher. Details on how to seek permission, further information about the
Publisher’s permissions policies and our arrangements with organizations such as the Copyright Clearance
Center and the Copyright Licensing Agency, can be found at our website: www.elsevier.com/permissions.

This book and the individual contributions contained in it are protected under copyright by the Publisher
(other than as may be noted herein).

Notices

Knowledge and best practice in this field are constantly changing. As new research and experience
broaden our understanding, changes in research methods, professional practices, or medical treatment
may become necessary.
Practitioners and researchers must always rely on their own experience and knowledge in evaluating
and using any information, methods, compounds, or experiments described herein. In using such
information or methods they should be mindful of their own safety and the safety of others, including
parties for whom they have a professional responsibility.
With respect to any drug or pharmaceutical products identified, readers are advised to check the
most current information provided (i) on procedures featured or (ii) by the manufacturer of each
product to be administered, to verify the recommended dose or formula, the method and duration of
administration, and contraindications. It is the responsibility of practitioners, relying on their own
experience and knowledge of their patients, to make diagnoses, to determine dosages and the best
treatment for each individual patient, and to take all appropriate safety precautions.
To the fullest extent of the law, neither the Publisher nor the authors, contributors, or editors,
assume any liability for any injury and/or damage to persons or property as a matter of products
liability, negligence or otherwise, or from any use or operation of any methods, products, instructions,
or ideas contained in the material herein.

Library of Congress Cataloging-in-Publication Data

Frazier, Margaret Schell.

Essentials of human diseases and conditions / Margaret Schell Frazier, Jeanette Wist Drzymkowski.
—5th ed.
    p. ; cm.
Includes index.
ISBN 978-1-4377-2408-0 (pbk.)
I. Drzymkowski, Jeanette Wist. II. Title.
[DNLM: 1. Disease. 2. Diagnostic Techniques and Procedures. 3. Pathology. 4. Signs and
Symptoms.
QZ 140]
LC classification not assigned
616–dc23
          2011033720

Executive Editor: Susan Cole

Associate Developmental Editor: Laurie Vordtriede
Publishing Services Manager: Catherine Jackson
Senior Project Manager: Mary Pohlman Working together to grow
Designer: Brian Salisbury libraries in developing countries
Printed in the United States of America www.elsevier.com | www.bookaid.org | www.sabre.org

Last digit is the print number: 9 8 7 6 5 4 3 2 1

Fifth Edition Editorial Review Board
We are deeply grateful to the various experts
who provided their comments and suggestions for
this edition and some previous editions as well.
Specifically we want to acknowledge the follow­
ing reviewers for their contributions of time and
effort to help make this a leading and valuable
learning tool:
Ronald N. Adamany, MD Barbara Shang, MD
Gastroenterology/Hepatology Diplomate, American Board of Ophthalmology
Mission Internal Medical Group, Inc. Director, Orange County Eye Center
Mission Viejo, California Irvine, California
Leon J. Baginski, MD, FACOG William C. Shiel, Jr., MD, FACP
Ob/Gyn Medical Group, Inc. Arthritis and Rheumatology
Mission Viejo, California Mission Internal Medical Group
Mission Viejo, California
Margaret A. Boswell, MS, LMFT
Private Practitioner Nicholas J. Shubin, DDS, DABOI/ID, DICOI,
Angola, Indiana FAAID, FAGD
San Juan Capistrano, California
Josh M. Randall, MD
Orange County Urologist
Mission Viejo, California

v
Contributing Authors
Gregory Folck, RPh Sharon J. Oliver, CPC, CPC-I, CPMA
CVS Pharmacy Member, American Academy of Professional
Kendallville, Indiana Coders
NAMAS (National Alliance of Medical Auditing
Jennifer Gerig, RN
Specialist)
Dupont Hospital
Senior In-Patient Biller, Cardiology/Internal
Fort Wayne, Indiana
Medicine
Carol O’Hear, MD, PhD Quillen College of Medicine
Pediatric Hematology/Oncology Fellow East Tennessee State University
St. Jude Children’s Research Hospital Johnson City, Tennessee
Memphis, Tennessee

vi
Acknowledgments

Special thanks go to the Elsevier experts involved our files of data and arranged it all in an accept-
in the publication of this text. Thank you Andrew able form. It has been a pleasure to work with you.
Allen, Vice President and Publisher of Health Pro- Mary Pohlman, as our always helpful Senior Project
fessions, for your positive vision and support of Manager you worked with expert diligence on
this book. We gratefully acknowledge Michael Led- details which readied the final pages for print.
better, former Publisher, and his continual encour- Jamie Augustine, Associate Marketing Manager,
agement of our work. We express our thanks to as our first developmental editor, you kept us on
Susan Cole, Executive Editor, for her guidance and tract and answered so many questions. Finally,
suggestions during the rewrite of the book. Laurie Helen O’Neal, Editorial Assistant, thank you for
Vordtriede, Associate Developmental Editor, thank being available to help us anytime we needed your
you for your patience with us as you interpreted assistance.

vii
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To Dave, my soul-mate, my advisor, my strength, and my love.
To our beloved grandchildren and great-grandchildren, you are our hope for the future.
To my former students, you taught me so much.
To my fellow Faith Community Health Clinic volunteers, Theresa Smith, MD, Judie
Sagendorf, RN, and Kathy French, RN, you give faith and hope to the community.
B l e s si n g s a n d l ov e , M a r g i e a n d G r a n d m a

My dedication is to Frank, my best friend, my philosopher, my personal technical

support extraordinaire, and so much more.

“How could I think the brief years were enough

To prove the reality of endless love?”
(From I Am a Book I Neither Wrote or Read, by Delmore Schwartz,
A Treasury of American Poetry, Nancy Sullivan, Barnes & Noble)
Jeanette
This page intentionally left blank
Preface

Essentials of Human Diseases and Conditions, Fifth syndrome is included in Chapter 8. Material in
Edition, is a user-friendly reference intended to Chapter 10 consists of the American Heart Associa-
serve as a stimulating and practical textbook for tion’s recently updated protocol for CPR on an
students as well as an invaluable tool as a handbook adult cardiac arrest victim, cardiac ablation, and
for health-care providers in any type of health-care lupus anticoagulant. A more thorough discussion
setting. Instructors of such classes as anatomy and of the functions of the kidneys in manufacture of
physiology, disease conditions, medical insurance urine has been added. Chapter 12 includes a thor-
coding, pharmacology, and medical transcription ough presentation of sexually transmitted diseases,
will likely appreciate the value of this edition as a many of which are considered to be epidemic.
required text. This encyclopedic but simplified Restless legs syndrome is incorporated into Chapter
handbook includes comprehensive information 13. Updated information on pervasive develop-
about hundreds of diseases and conditions. Stu- ment disorders including autism and attention-
dents in the field of medical assisting, medical tran- deficit hyperactivity disorder including diagnostic
scription, medical insurance coding, pharmacy criteria for attention-deficit hyperactivity disorder
technology, massage therapy, or other allied health has been added to Chapter 14. Two Enrichment—
programs who have had a prior introduction to Rehabilitation and Sexual Assault Response Teams
basic anatomy and physiology of the human body and Evidence Maintenance—have been included
and medical terminology will find the text format in Chapter 15.
orderly, concise, and easy to comprehend. Chapter 1 introduces the reader to general prin-
ciples of pathophysiology. In conjunction with a
breakdown of the mechanisms of disease the subject
Distinctive Features matter flows through integrant aspects important
of Our Approach for the student to consider in the study of human
diseases such as; genetics, immune disorders, pre-
Because disease conditions are universally experi- ventive health care, non traditional medicine and
enced, there is a natural curiosity about them and patient teaching. Additionally, cancer is introduced
an interest in understanding them. Written by in Chapter 1 with foundational information about
experienced nurses who are educators of medical the pathology, pathogenesis, and prognostic indica-
paraprofessionals, this book condenses and simpli- tors of the disease (staging and grading of tumors).
fies current medical information on the more Specific sites and types of cancers are then compre-
common clinical disorders encountered in the hensively addressed in subsequent chapters. This is
health field and physician’s office. followed by a discussion of pediatric situations in
Content and topics new to this edition include Chapter 2. After these general discussions, the text
in Chapter 2 dialogue regarding hypertropic car- progresses through body systems from Chapters 3
diomyopathy (HCM), often a congenital disorder to 12. Chapter 13 covers the most common neuro-
that is considered a major cause of sudden cardiac logical diseases and conditions. Chapter 14 is
death in young athletes who have appeared to be entirely devoted to discussion of mental disorders,
completely healthy. Childhood obesity is also including phobias, grief response, posttraumatic
included in an alert in Chapter 2. Chapter 4 now stress disorders, alcohol abuse, sleep disorders, and
contains an explanation of insulin pump therapy other conditions covered by DSM-IV. This chapter
for diabetics. Chapter 6 includes updated informa- also includes a comprehensive chart on drugs of
tion on skin cancers and a discussion of ocular abuse, their street names, and their effects on the
rosacea. A discussion on obesity and metabolic abuser. Chapter 15 includes information that aids

xi
xii PREFACE

health care providers with practical knowledge remarks therein usually are tailored to the disease
when faced with a variety of traumatic injuries. This entity being discussed. Because the vast majority of
material includes lightning injuries; insect, animal, patients first seek access to health-care services by
and snake bites; child abuse; psychological abuse; telephone, many health-care facilities have a
elder abuse; sexual abuse; intimate partner abuse; written, standardized protocol for medical person-
and rape. nel who take incoming calls. The comments offered
in the Patient Screening feature of this text are not
intended to diagnose the caller’s medical condition
Organization of Material or give curative advice. The feature typically offers
general clues to recognizing the urgency for an
Each chapter is introduced with a brief review of appointment, identifying emergencies, and dis-
the normal function of the specific body system cerning the kind of calls that require referral to the
discussed in the chapter, and this review is rein- physician for response. This feature is not to be
forced with clear illustrations. Important patho- confused with the skill of medical triage, which state
logic mechanisms are explained and illustrated as practice acts generally reserve for certain licensed
well. A disease entity is presented with a description professionals. Careful listening to the patient who
and discussion of the symptoms experienced by the is calling often identifies information that helps the
patient and signs detected by the physician. The telephone screener select the appropriate action
chapters continue with sections devoted to etio- required by the caller. Ideally, the outcome of tele-
logic factors, diagnosis, treatment options, progno- phone communication between caller and screener
sis, prevention, and patient teaching related to the will benefit the patient and avoid potential medical-
disease entity. A diagnostic code is assigned to each legal problems. Maintaining sensitivity to human
disease entity. (See important notes at the end of suffering, keeping strict confidentiality, and uphold-
the preface.) ICD-9-CM and ICD-10-CM codes are ing the priority of meeting the needs of patients
included to aid in locating appropriate insurance cannot be overemphasized as skills necessary in a
codes. This format also follows the inherent pro- medical telephone screener.
gression of a patient’s experience: (1) the individ- In this regard, we also would like to add a list of
ual reports symptoms to a health-care provider, serious and life-threatening conditions that require
usually in a clinical setting; (2) abnormal signs of immediate assessment and intervention. These
a clinical disorder may be elicited during the physi- include but are not limited to:
cal examination and/or subsequent diagnostic
• Sudden onset of unexplained shortness of
testing; (3) an appropriate treatment option is initi-
breath
ated and monitored for results; (4) the patient is
• Crushing pain across the center of the chest
given appropriate teaching to encourage compli-
• Difficult breathing occurring suddenly and
ance to ensure an optimal outcome. The usual
rapidly worsening, often in the middle of the
prognosis for the condition and possible preventive
night
measures are discussed.
• Vomiting of blood that is bright red or with a
Italicized words found in the chapters are
very dark “coffee grounds” appearance
defined in the Glossary for purposes of review or
• Sudden onset of weakness and unsteadiness or
clarification of meaning. The advantages to the
severe dizziness
student and health-care worker in better under-
• Sudden loss of consciousness or paralysis
standing clinical terminology include (1) great pro-
• Flashes of light in field of vision
fessional gain when one comprehends the effects
• Sudden and progressively worsening abdominal,
that a disease has on a person, (2) increased com-
flank, or pelvic pain
munication skills with the entire health-care team,
• Sudden onset of blurred vision accompanied by
and (3) personal education that has many practical
severe throbbing in the eye
applications.
The authors believe it is important to define the A report of any of these symptoms must be
role of patient screening in each discussion. There- immediately relayed to the physician. The physi-
fore the discussion of each particular disease entity cian will then offer additional instructions to give
begins with a feature called Patient Screening; the to the individual calling for help.
 PREFACE  xiii

The appendices offer valuable information name of drug, usual intended therapeutic objec-
about diagnostic testing, pharmacology, and tive, possible side effects, and general comments.
resource agencies. The Common Laboratory and The presentation of this appendix follows the
Diagnostic Tests appendix discusses tests often chapters in the text. Once again, the reader must
ordered by the physician. Reference values are recognize that drugs and drug substances may be
listed for laboratory tests, followed by possible continually changing and that any specific mate-
causes of each variation above normal or below rial must be confirmed by referencing a current
normal. Reference values or expected normal drug reference or pharmacology reference source.
results are discussed for imaging and other The final appendix is located on Evolve and con-
studies. Again, causes of variations from normal tains listings of resource agencies. Many contain
are provided. It is imperative that the reader using names of agencies, mailing addresses, telephone
this information recognize that reference values contact numbers, and website information.
may vary according to the laboratory in which the Resource agencies tend to change locations, tele-
test is performed and reported. Another appen- phone numbers, and websites; therefore the
dix contains pharmacology information. Repre- reader may view updates by using the Evolve site
sentative drugs are listed by group and include for this book.

Chapter Features
Key features of each chapter include:

Each chapter begins with a set of

Learning Objectives that list
important information the student
will be able to do after reading
the chapter content.

The Key Terms list provides

pronunciations for important words
related to chapter content. Boldfaced
words found in the text are listed in
the Key Terms at the beginning of each
chapter, as well as in the Glossary
unless the term is adequately defined
within the text of the chapter.
xiv PREFACE

Alert boxes provide essential

warnings (cautions and precautions)
that require discussion or may require
special treatment.

Enrichment boxes give the

reader pertinent or relevant
information that enhances a
discussion topic in the text.

A diagnostic code used in the

health-care setting has been
assigned to each disease entity in
this publication to help students and
workers in the health-care setting
understand the ICD-9-CM/ICD-10-CM
coding process when reporting
clinical information.
 PREFACE  xv

Extensive Supplemental The vast amount of information provided

by sources found on this Evolve website is avail-
Resources able for access at evolve.elsevier.com/Frazier/
essentials/.
Student Workbook
The workbook features comprehensive additional
review exercises and practice activities in a variety
Test Bank
of formats to reinforce chapter topics. The test bank located on the Evolve site in the
ExamView format gives instructors the option of
• Word Definitions and Glossary Terms review evaluating students’ retained knowledge by chapter
important key terms covered in each chapter. in a comprehensive format. This tool is capable
• Short Answer and Fill-in-the-Blank questions of assessing retention of essential information
review key chapter concepts. necessary for excellence in functioning in the
• An Anatomical Structures section in select chap- workplace.
ters presents diagrams representing key body
structures to be labeled by the student.
• A Patient Screening section guides students in
the practice of appointment scheduling or spe-
TEACH Instructor Resources
cialist referral based on a patient’s described The TEACH Instructor Resources contains answer
signs and symptoms. keys to the text and workbook, test bank and
• A Patient Teaching section guides students in answer key, as well as detailed lesson plans and
the practice of performing patient education for lecture outlines. The lesson plans are linked to
various diseases and disorders. each chapter and are divided into 50-minute units
• Essay questions invite students to further inves- in a three-column format. The lecture outlines
tigate key chapter topics. in PowerPoint provide talking points, thought-
• A Certification Exam Review helps students provoking questions, and unique ideas for lec-
prepare for the certification exam with ques- tures. The Evolve site includes all the instructor’s
tions focused on chapter content in multiple resource manual assets plus test bank in Exam-
choice format. View, and PowerPoint slides to help the instructor
save valuable preparation time and create a learn-
ing environment that fully engages the student.
Evolve All the above features are available to the instruc-
tor for easy download from the Evolve site, allowing
Students and health-care providers need a method the instructor to apply his or her creativity; all of
of keeping current on developments, trends, these features may be revised to accommodate any
changes, and news in the medical arena. The spe- instructor’s lesson plan.
cially designed complimentary Evolve website
offers an extensive list of pertinent links to informa-
tion for over 500 diseases and disorders. It also
provides periodic updates to information found in
Important Information
the text. Additionally, pertinent information that The information presented in this book represents
expands discussion of several of the conditions is research into the mainstream of medical knowl-
identified in the text with the icon E. The Evolve edge and its application in clinical practice. In the
site also gives students or health-care professionals actual practice of the dynamic art and science of
an avenue for accessing necessary information medicine, great variations and opposing views
from the ever-changing field of medicine and result in either more conservative or more aggres-
health care. Critical thinking case study exercises sive concepts. The material presented in this text
linked to each chapter can be found on the Evolve should not take the place of individualized consul-
website. tation with medical experts.
xvi PREFACE

Regarding the diagnostic codes included in physician, physician assistant, nurse practitioner,
this publication, it is imperative to consider the or registered nurse.
following: The authors consider it important, and in the
Medical coding is an intricate and intense patient’s best interest, that all health-care workers
process requiring study and understanding to as members of a clinical team understand the prin-
ensure maximum reimbursement from insurance ciples, goals, and specifics of patient teaching.
companies, for participation in Medicare and Med- Licensing regulations and state practice acts generally
icaid programs, and for statistical tabulation. Diag- permit only nurses, nurse practitioners, physician assis-
nostic codes are subject to changes, revisions, and tants, and physicians to perform patient teaching and
additions; therefore it is imperative that you always make triage judgments.
refer to a current listing of ICD-9-CM/ICD-10-CM Students completing education in medical assist-
codes. The authors have kept in mind that financial ing will find this book an invaluable tool as they
reimbursement directly correlates with the report- move into the professional arena. It has been
ing of current, valid codes, which may require designed to provide information relevant in the
modification to ensure greatest specificity found in medical office environment and will remain a
the most current coding manual and guidelines. handy reference during employment. The website
Therefore the authors recommend referral to a updates will offer a resource covering current
current edition of a coding manual. changes in the health-care field to help keep the
Regarding patient teaching, the authors are graduate current.
mindful of legal parameters addressed in state acts The established health-care provider, whether a
governing the practice of medical assistants. Readers, medical assistant, nurse, transcriber, coder, respira-
please consult your state code regarding licensing for the tory therapist, massage therapist, receptionist,
rules and regulations applying to medical assistant prac- EMT, paramedic, pharmacy technician, or other,
tice. State practice laws vary; they identify the tasks will find this reference material a valuable resource
the properly prepared medical assistant can in his or her work with the patient. Knowledge of
perform. Regarding the responsibility issue, the the disease and its related factors is essential in the
medical assistant in a medical office must know provision of quality care.
who his or her supervisor is; it may be the physician.
Medical assistants should ask about a written office Margaret Schell Frazier, RN, CMA (AAMA), BS
policy regarding any delegation of tasks by the Jeanette Wist Drzymkowski, RN, BS
Contents

1 Mechanisms of Disease, Diagnosis, and Treatment 1

2 Developmental, Congenital, and Childhood Diseases and Disorders 38

3 Immunologic Diseases and Conditions 124

4 Diseases and Conditions of the Endocrine System 166

5 Diseases and Disorders of the Eye and Ear 200

6 Diseases and Conditions of the Integumentary System 249

7 Diseases and Conditions of the Musculoskeletal System 297

8 Diseases and Conditions of the Digestive System 345

9 Diseases and Conditions of the Respiratory System 421

10 Diseases and Conditions of the Circulatory System 470

11 Diseases and Conditions of the Urinary System 554

12 Diseases and Conditions of the Reproductive System 590

13 Neurologic Diseases and Conditions 660

14 Mental Disorders 709

15 Disorders and Conditions Resulting from Trauma 767

Appendix I Common Laboratory and Diagnostic Tests 822

Appendix II Pharmacology 844

Glossary 861

Index 876

xvii
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Chapter 1


Mechanisms of Disease,
Diagnosis, and Treatment

Chapter Outline
PATHOLOGY AT FIRST PAIN, 26
GLANCE, 2 Describing Pain, 26
MECHANISMS OF DISEASE, 3 Physiology of Pain, 26
PREDISPOSING FACTORS, 3 Pain Classification, 28
INFLAMMATION AND REPAIR, 4 Pain Relief, 29
INFECTION, 4 PREVENTIVE HEALTH CARE, 29
GENETIC DISEASES, 7 NONTRADITIONAL MEDICINE, 31
GENETIC COUNSELING, 8 PATIENT TEACHING, 34
CANCER, 9 GENERAL PRINCIPLES OF PATIENT
IMMUNE DISORDERS, 17 TEACHING, 34
PHYSICAL TRAUMA AND CHEMICAL GOALS OF PATIENT TEACHING, 34
AGENTS, 18 REASONS FOR PATIENT TEACHING, 34
MALNUTRITION, 18 THE SPECIFICS OF PATIENT TEACHING:
AGING, 18 ADDRESSING THE PATIENT’S
PSYCHOLOGICAL FACTORS, 19 CONCERNS, 35
MENTAL DISORDERS, 19 Preoperative Care, 36
DIAGNOSIS OF DISEASE, 20 Postoperative Care, 36
TREATMENT OF DISEASE, 21 SPECIAL CONSIDERATIONS FOR
CULTURAL DIVERSITY, 25 THE PATIENT WITH CANCER OR
GENE THERAPY, 25 LIFE-THREATENING DISEASE, 36
STEM CELL RESEARCH, 25
 2 CHAPTER 1 Mechanisms of Disease, Diagnosis, and Treatment
Pathology at First Glance

Learning Objectives
After studying Chapter 1, you should be able to: 8. Describe the hospice concept of care.
1. Explain how a pathologic condition affects the homeostasis 9. Name two ways an individual can practice positive health
of the body. behavior.
2. Describe the difference between: 10. Describe (a) the physiology of pain, (b) how pain may be
Signs and symptoms of disease treated, and (c) what is meant by referred pain.
Acute and chronic disease 11. Define the holistic approach to medical care.
Benign and malignant neoplasms 12. Describe examples of nontraditional medical therapies.
3. Identify the predisposing factors of disease. 13. Define integrative medicine.
4. Describe the ways in which pathogens may cause disease. 14. Discuss the principles and goals of patient teaching.
5. Track the essential steps in diagnosis of disease. 15. List some health effects of exposure to secondhand
6. List the prevention guidelines for cancer. tobacco smoke.
7. Explain the inflammation response to disease.

Key Terms
allergen (AL-ler-jen) hospice (HAUS-pis)
anaphylaxis (an-ah-fih-LAK-sis) ischemia (is-KEY-me-ah)
antigen (AN-tih-jen) karyotype (KARE-ee-o-type)
asymptomatic (a-sim-toh-MAH-tik) metastasis (meh-TAS-tah-sis)
auscultation (aws-kel-TAY-shun) mutation (meu-TAY-shun)
cachexia (kah-KEX-e-ah) nociceptor (no-see-SEHP-tor)
carcinogenic (kar-sih-no-JEN-ik) oncogene (AHN-ko-jeen)
chromosome (KRO-mo-sohm) pathogenesis (path-o-JEN-eh-sis)
genotype (JEN-o-type) phagocytic (fag-o-SIT-ik)
homeostasis (ho-me-o-STA-sis) somatoform (so-MAT-o-form)

Pathology at First Glance

P athology, the scientific study of disease, is the
objective description of the traits, causes, and
effects of abnormal conditions. Pathologic condi-
abnormal blood pressure reading in a person with
undiagnosed essential hypertension. A defined col-
lection of signs and symptoms that characterize a
tions involve measurable changes in normal struc- disorder or condition is termed a syndrome.
ture and function that threaten the internal The development of disease occurs in stages,
stability, or homeostasis, of the body. described as the pathogenesis. In the course of
In human disease, the negative characteristics, infection, for instance, the pathogenesis may
or departures from normal status, are described include an incubation period, a period of full-
subjectively by patients as symptoms. Signs, or blown symptoms, and then remission or convales-
abnormal objective findings, are the evidence of cence. The pathogenesis of a disease varies with the
disease found by physical examination and diagnos- individual patient, the causative factors, and
tic testing. Signs of disease often correlate with the medical intervention.
symptoms. In other instances, the signs of disease Diseases often are described as acute or chronic.
may be noted in an asymptomatic patient, as in the Acute refers to an abrupt onset of more or less
discovery of a painless tumor or the finding of an severe symptoms that run a brief course (usually
 CHA PTER 1 Mechanisms of Disease, Diagnosis, and Treatment 3

shorter than 6 months) and then resolve or, in 6 months, it is described as chronic. Persons who

Predisposing Factors
some cases, result in death. When a disease devel- have continuous pain as part of chronic syndromes
ops slowly, or is intermittent, and lasts longer than often experience depression.

MECHANISMS OF DISEASE
Human disease, a universal occurrence, has varied Gender. Certain diseases are more common in
manifestations, any of which threatens a person’s women (e.g., multiple sclerosis and osteopo-
ability to adapt to internal and external stressors rosis) and other disorders are more common
and to maintain a state of well-being. Systemic in men (e.g., gout and Parkinson’s disease).
health, or internal equilibrium, is preserved by Lifestyle. Occupation, habits, or one’s usual
numerous body organs and structures that work in manner of living can have negative cumula-
concert to meet specific cellular needs. Any disrup- tive effects that can threaten a person’s
tion of the body’s equilibrium produces degenera- health. It is possible to alter some known risk
tive changes at the cellular level that may produce factors associated with lifestyle, thereby pro-
signs and symptoms of disease. Major disruptions moting health instead of predisposing one to
in the body’s cellular equilibrium that threaten disease; examples include smoking, excessive
homeostasis include fluid and electrolyte imbal- drinking of alcohol, risky sexual behavior,
ance and excessive acidity (acidosis) or alkalinity poor nutrition, lack of exercise, and certain
(alkalosis). psychological stressors.
Elements involved either directly or indirectly in Environment. Air and water pollution is consid-
pathogenesis include predisposing factors, access ered a major risk factor for illnesses such as
to preventive health care, genetic diseases, infec- cancer and pulmonary disease. Poor living
tion, inflammation and repair, neoplasms, physical conditions, excessive noise, chronic psycho-
trauma, chemical agents, malnutrition, immune logical stress, and a geographic location con-
disorders, aging, psychological factors, and mental ducive to disease proliferation also are
disorders. environmental risk factors.
Heredity. Genetic predisposition (inheritance)
currently is considered a major risk factor.
Predisposing Factors Family histories of coronary disease, cancer,
certain arthritic conditions, and renal disease
Predisposing factors, also called risk factors, make a are known hereditary risk factors. Many other
person or group more vulnerable to disease. genetic links to diseases are rapidly being dis-
Although the recognition of risk factors may be covered. Hereditary factors in disease that
significant in prevention, diagnosis, and prognosis, appear regularly in successive generations
it does not precisely predict the occurrence of are likely to affect males and females equally.
disease, nor does the absence of predisposing Hereditary or genetic diseases often develop
factors necessarily protect against the development as a result of the combined effects of inheri-
of disease. A person may be susceptible to a greater tance and environmental factors. Examples
or lesser degree, due to one or more risk factors are mental illness, cancer, hypertension,
that overlap or occur in combination. Predisposing heart disease, and diabetes. Some evidence
factors include age, gender, lifestyle, environment, shows that smoking, a sedentary lifestyle, and
and heredity. a diet high in saturated fat, combined with a
Age. From complications during pregnancy and positive family history, compound a person’s
the postpartum period to maladies associated risk for heart disease and cancer. Schizophre-
with aging, some increased risks of diseases nia may result from a combination of genetic
are simply intrinsic to one’s stage in the predisposition and numerous psychological
human life cycle. and sociocultural causes.
 4 CHAPTER 1 Mechanisms of Disease, Diagnosis, and Treatment

are fever, headache, body aches, weakness, fatigue,

Inflammation and Repair / Infection

Inflammation and Repair loss of appetite, and delirium.

When disease-causing organisms find ideal con-
Injury and disease impose stress on the body’s ditions in which to grow and multiply in the body,
equilibrium and disrupt or destroy cellular func- they cause disease by (1) invasion and local destruc-
tion. Acute inflammation, a normal protective tion of living tissue and (2) intoxication or produc-
physiologic response to tissue injury and disease, is tion of substances that are poisonous to the body.
accompanied by redness, heat, swelling, pain, and The result is tissue damage that has the potential
loss of function. Widespread inflammation is for producing systemic involvement.
marked by systemic symptoms, such as fever, The sources of infection can be endogenous
malaise, and loss of appetite. Blood testing may (originating within the body) or exogenous (origi-
reveal an elevated white blood cell count or an nating outside the body). Modes of transmission of
elevated erythrocyte sedimentation rate (ESR). pathogenic organisms are direct or indirect physi-
C-reactive protein (CRP) is a blood test marker cal contact, inhalation or droplet nuclei, ingestion
used to detect inflammatory disorders, among of contaminated food or water, or inoculation by an
other pathologies. The intensity of inflammation insect or animal. Pathogenic agents include bacte-
depends on the cause, the area of the body ria, viruses, fungi, and protozoa (Table 1-1). E1-2
involved, and the physical condition of the person. A communicable or contagious disease can be
An inflammatory response is considered a nonspe- transmitted directly from one person to another.
cific immune response. Infection with pathogens, Carriers are asymptomatic persons or animals that
the effects of toxins, physical trauma, ischemia, harbor in their bodies pathogens that can be trans-
and necrosis are some conditions that induce the ferred to others.
inflammatory response. E1-1 The body’s natural defense systems against
Acute inflammation, an exudative response, infection include (1) natural mechanical and
attempts to wall off, destroy, and digest bacteria chemical barriers, such as the skin, the cilia, body
and dead or foreign tissue. Vascular changes allow pH, and normal body flora; (2) the inflammatory
fluid to leak into the site; this fluid contains chemi- response; and (3) the immune response. When
cals that permit phagocytic activity by white blood these mechanisms of defense fail to contain or
cells. The process prevents the spread of infection eliminate infection, appropriate and prompt
through antibody action and other chemicals medical intervention is required to treat the host
released by cells with more specific immune activ- and to control transmission of the infectious
ity. After the mechanisms of inflammation have disease. This is accomplished by first isolating and
contained the insult and “cleaned up” the damaged identifying the organism through laboratory
area, repair and replacement of tissue can begin testing. Subsequently, appropriate antimicrobial
(Figure 1-1). A normal inflammatory response can therapy using antibiotic (antibacterial), antifungal,
be inhibited by immune disorders, chronic illness, antiparasitic, or antiviral agents can begin. Analge-
or the use of certain medications, especially long- sics for pain and antipyretic agents for fever, as well
term steroid therapy. as other comfort measures, are dispensed. Ade-
When an inflammatory response is chronic or quate fluid intake, infection control measures, and
too intense, damage to the affected tissue can rest are important for management.
result, thereby inhibiting the healing process. Dis- Fundamental to preventing the spread of
eases with a chronic inflammation component certain infections are isolation of the infected indi-
include arthritis, asthma, and eczema. vidual when necessary, implementation of immuni-
zation programs, and rudimentary public health
teaching. To facilitate early intervention and infec-
Infection tion control measures, many infectious diseases
such as encephalitis, syphilis, and tuberculosis
Infectious diseases are caused by pathogens. The must be reported to the local health department.
cardinal signs of local infection are redness, swell- The Centers for Disease Control and Prevention
ing, heat, pain, fever, pus, enlarged lymph glands, (CDC) publishes notifiable diseases in the United
and red streaks. Symptoms of widespread infection States. In hospitals, the control of postsurgical