Examples of pathological (disease) conditions

The HUMAN BODY IN HEALTH & DISEASE

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APPENDIX A
Examples of Pathological Conditions
Table 1 Leading Health Problems
Table 2 Viral Conditions
Table 3 Bacterial Conditions
Table 4 Mycotic (Fungal) Conditions
Table 5 Conditions Caused by Protozoa
Table 6 Conditions Caused by Pathogenic Animals
Table 7 Conditions Caused by Physical Agents
Table 8 Endocrine Conditions
Table 9 Autoimmune Diseases
Table 10 Deficiency Diseases
Table 11 Genetic Conditions
Table 1
Leading Health Problems
*

CONDITION CHAPTER REFERENCE
Diseases of the heart and blood vessels Chapters 13 and 14
Cancer Chapter 5
Stroke Chapter 9
Chronic lower respiratory diseases Chapter 16
Accidents Chapter 5
Diabetes mellitus Chapter 11
Alzheimer disease (AD) Chapter 9
Pneumonia and influenza Chapters 5 and 16
Kidney disease Chapter 19
*Principal causes of death in the United States ranked by number of deaths caused by each condition.

Table 2
Viral Conditions
DISEASE VIRUS DESCRIPTION
Acquired
immunodeficiency
syndrome (AIDS)
Human
immunodeficiency
virus (HIV)
Although not identified in the West until 1981, HIV
may have existed in Africa for many years. It is
transmitted by direct contact with body fluids, perhaps
within white blood cells (WBCs) in blood or semen.
AIDS is characterized by T-lymphocyte damage,
resulting in immune dysfunction. Death results from
secondary infections or tumors.
Acute T-cell
lymphocytic leukemia
(ATLL)
Human T-lymphotropic
virus 1 (HTLV-1)
This form of cancer in adults can be caused by the
oncovirus (“cancer virus”) HTLV-1. This disease is
one of many forms of leukemia and does not appear
until at least 30 years after initial infection. HTLV-1

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is transmitted in the same manner as HIV.
Chickenpox
(varicella) and
shingles (herpes
zoster)
Varicella-zoster virus
(VZV)
Chickenpox is usually a childhood infection typically
involving blisters and fever. Herpes zoster, commonly
known as shingles, occurs later (in adulthood) in
those who had the varicella infection at an earlier age.
Shingles often involves a rash along a single
dermatome on one side of the body and is
accompanied by severe pain.
Common cold and
upper respiratory
infections (URIs)
Rhinoviruses This mild, contagious infection is characterized by
nasal inflammation, weakness, cough, and low-grade
fever. Dozens of different rhinoviruses have been
typed.
Fever blisters and
herpes
Herpes simplex 1 and 2 This virus causes blisters on the hands or face (fever
blisters) or genitals (genital herpes). The blisters may
disappear temporarily but may reappear, especially as
a result of stress.
Hantavirus
pulmonary syndrome
Hantavirus This serious viral disease is characterized by fever and
flulike symptoms that often progress to respiratory
failure; it is spread by rodent excreta.
Hepatitis (infectious) Hepatitis A virus The liver inflammation caused by this virus is
characterized by slow onset and complete recovery.
This virus is spread by direct contact or contaminated
food or water.
Hepatitis (serum) Hepatitis B virus This acute-onset liver inflammation may develop into
a severe chronic disease, perhaps ending in death.
Hepatitis (non-A;
non-B)
Hepatitis C This viral liver inflammation is transmitted by
contaminated blood; initially mild cases may become
chronic and over long periods progress to cirrhosis
and liver failure.
Infectious
mononucleosis
Epstein-Barr virus
(EBV)
This acute infection is characterized by fever, sore
throat, increased count and abnormal shape of
lymphocytes, and liver, spleen, or lymph node
swelling.
Influenza Influenza A, B, C, etc. This highly contagious respiratory infection is
characterized by sore throat, fever, cough, muscle
pain, and weakness. New strains of viruses A, B, and
C appear at intervals—usually originating in Asia.
Measles Morbillivirus This acute, contagious respiratory infection is
characterized by fever, headache, and the measles
rash.
Mumps Paramyxovirus This acute infection is characterized by swollen
parotid salivary glands, fever, and in adult males,
swollen testes; mumps is most common in children
but can occur at any age.
Poliomyelitis Poliovirus 1, 2, and 3 This acute infection has several different forms
(depending on extent of infection): asymptomatic,

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mild, nonparalyzing, and paralyzing. It is no longer
common in the United States because of successful
vaccination programs.
Rabies Rabies virus This fatal infection of the central nervous system is
usually transmitted through the bites of infected
animals.
Rubella (German
measles)
Rubella virus This contagious infection is characterized by upper
respiratory inflammation, swollen lymph nodes, joint
pain, and measles-like rash. In pregnant women it can
spread to the fetus and cause congenital defects.
Viral encephalitis Many different viruses Viral encephalitis is a general term for any brain
inflammation caused by a virus. Brain damage may
occur, perhaps causing death. Many different forms
exist because many different viruses may infect the
brain (e.g., St. Louis encephalitis, California
encephalitis, and equine encephalitis). Most
encephalitis viruses are transmitted by mosquitoes.
Warts, genital warts,
and cervical cancer
Human
papillomaviruses
(HPV)
Warts are nipple-like neoplasms of the skin. Forty-six
HPV types have been identified. HPV types 6 and 11
cause genital warts, a common sexually transmitted
disease (STD).

Table 3
Bacterial Conditions
DISEASE ORGANISM DESCRIPTION Acute bacterial
conjunctivitis
Staphylococcus,
Haemophilus, Proteus,
and other organisms
This acute inflammation of the conjunctiva covering
the eye is characterized by a discharge of mucous pus;
it is highly contagious (compare with trachoma).
Anthrax Bacillus anthracis Usually transmitted from farm animals, this infection
is characterized by a reddish-brown skin lesion but
can also infect the respiratory tract. It can be fatal.
Botulism Clostridium botulinum
(bacillus)
This is a possibly fatal food poisoning resulting from
ingestion of food contaminated with toxins produced
by C. botulinum.
Brucellosis Brucella species (bacilli) Also called undulant fever, this bacterial infection is
transmitted from farm animals and is characterized by
chills, fever, weight loss, and weakness. Serious
complications can occur if it is not treated.
Cholera Vibrio cholerae (curved) This acute intestinal infection is characterized by
diarrhea, vomiting, cramps, dehydration, and
electrolyte imbalance caused by bacterial toxins. It
can be fatal if untreated. It spreads through
contaminated food or water.
Dental caries Streptococcus mutans
(coccus) and other
organisms
Tooth demineralization is caused by acids formed
when nutrients on the tooth’s surface are metabolized
by bacteria. It can progress to a bacterial invasion of

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the tooth’s pulp cavity and beyond.
Diphtheria Corynebacterium
diphtheriae (bacillus)
Diphtheria is an acute, contagious disease
characterized by systemic poisoning by bacterial
toxins and development of a “false membrane” lining
of the throat that may obstruct breathing. Untreated, it
may be fatal.
Epiglottitis Haemophilus influenzae Acute inflammation of epiglottis is characterized by
fever, sore throat, and swelling (emergency treatment
to maintain airway may be necessary).
External otitis
(swimmer’s ear)
Pseudomonas
aeruginosa,
Staphylococcus aureus,
Streptococcus pyogenes,
etc.
Inflammation of the external ear canal is usually
caused by bacteria but can also result from herpes
infections, allergy, and other factors.
Gastroenteritis Many different bacteria Gastroenteritis is a general term for any inflammation
of the gastrointestinal tract. Many different bacterial
infections can cause this condition. (See
Salmonellosis.)
Gonorrhea Neisseria gonorrhoeae
(coccus)
This common STD infects primarily the genital and
urinary tracts but can affect the throat, conjunctiva, or
lower intestine. It may progress to pelvic
inflammatory disease (see later entry).
Legionnaires
disease
Legionella pneumophila
(bacillus)
This is a type of pneumonia characterized by
influenza-like symptoms followed by high fever,
muscle pain, and headache—possibly progressing to
dry cough and pleurisy. It is spread by moist
environmental sources (e.g., air conditioning cooling
units and soil) rather than person-to-person contact.
Lyme disease Borrelia burgdorferi
(spirochete)
Although the first cases were known only near Lyme,
Connecticut, this tick-borne disease is now endemic
over much of the United States. It usually first
presents as a “bull’s-eye” rash but later may cause
chronic nerve, heart, and joint problems.
Lymphogranuloma
venereum (LGV)
Chlamydia trachomatis
(small)
This chronic STD is characterized by genital ulcers,
swollen lymph nodes, headache, fever, and muscle
pain. C. trachomatis infection may cause a variety of
other syndromes, including conjunctivitis, urogenital
infections, and systemic infections. C. trachomatis
infections constitute the most common STD in the
United States.
Meningitis Streptococcus
pneumoniae, Neisseria
meningitidis,
Haemophilus influenzae,
and other organisms
Meningitis is any inflammation of the meninges
covering the brain and spinal cord. Several different
bacteria can infect the meninges, as can several fungi;
the condition can be mild, but if severe, it can cause
death.
Parrot fever Chlamydia psittaci Also called ornithosis, this pneumonia-like infection

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(psittacosis) (small) is transmitted by parrots and other birds. It is
characterized by cough, fever, loss of appetite, and
severe headache.
Pelvic inflammatory
disease (PID)
Neisseria gonorrhoeae
(coccus), Mycoplasma
hominis (small free-
living), and other
organisms
PID refers to any extensive inflammation of the
female pelvic structures. Chronic inflammation
associated with PID can cause tissue damage that
leads to sterility.
Pertussis (whooping
cough)
Bordetella pertussis
(bacillus)
Pertussis is an acute, contagious infection of the
respiratory tract characterized by coughs that end with
“whooping” respirations.
Pneumonia Streptococcus
pneumoniae (coccus) and
other organisms
An acute lung infection that commonly develops after
the flu or some other condition that prevents
clearance of the lungs. It is characterized by blockage
of the pulmonary airways.
Q fever Coxiella burnetii (small) Q (for “query”) fever usually involves respiratory
infection and is characterized by fever, headache, and
muscle pain. Acute and chronic forms may develop
after exposure to infected animals or animal products;
this is a rickettsial disease.
Rheumatic fever Group A beta-hemolytic
streptococci (cocci)
This inflammatory disease results from a delayed
reaction to “strep” infection; it may affect heart,
brain, joints, or skin.
Rocky Mountain
spotted fever
(RMSF)
Rickettsia rickettsii
(small)
This sometimes fatal, tick-borne disease is
characterized by fever, chills, headache, muscle pain,
rash, constipation, and hemorrhagic lesions; it may
progress to shock and renal failure.
Salmonellosis Salmonella species
(bacilli)
This type of bacterial gastroenteritis is caused by
ingestion of contaminated food.
Shigellosis
(Shigella dysentery
and bacillary
dysentery)
Shigella species (bacilli) This common disease is characterized by bloody,
mucous diarrhea, cramps, fever, and fatigue. It can
cause dehydration, electrolyte imbalance, and acidosis
if not treated. Antibiotic resistant strains of Shigella
organisms make this condition a serious health
threat—especially in areas with poor sanitation.
Staphylococcal
infection
Staphylococcus species
(cocci)
These bacterial infections are characterized by
abscesses; one such infection is staphylococcal
scalded skin syndrome (SSSS), a skin disorder of
infants and young children.
Syphilis Treponema pallidum
(spirochete)
This sexually transmitted disease can affect any
system. Primary syphilis is characterized by chancre
sores on exposed areas of the skin. Untreated,
secondary syphilis may appear 2 months after
chancres disappear. The secondary stage occurs when
the spirochete has spread throughout the body,
presenting a variety of symptoms, and is still highly

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contagious—even through kissing. Tertiary syphilis
may occur years later, possibly resulting in death.
Tetanus Clostridium tetani
(bacillus)
In this acute, sometimes fatal central nervous system
infection, the bacteria usually enter a wound and then
produce a toxin that causes headache, fever, and
painful muscle spasms.
Toxic shock
syndrome (TSS)
Staphylococcus aureus
strains (cocci)
This acute, severe toxic infection is associated with
the use of highly absorbent tampons but can occur
under a variety of circumstances. It begins as a high
fever, headache, sore throat, etc., and may progress to
renal failure, liver failure, and possibly death.
Trachoma
(chlamydial
conjunctivitis)
Chlamydia trachomatis
(small)
This chronic infection of the conjunctiva covering the
eye is characterized by painful inflammation,
photophobia (light sensitivity), and excessive
production of tears; if untreated, it will progress to
form granular lesions that eventually affect the cornea
and cause blindness.
Tuberculosis Mycobacterium
tuberculosis
This chronic infection usually affects the lungs
(pulmonary tuberculosis) and is characterized by
fatigue, dyspnea, and chronic cough and is
transmitted by inhalation or ingestion of bacteria.
Typhoid fever Salmonella typhi
(bacillus)
Also called enteric fever, this condition is
characterized by fever, headache, cough, diarrhea, and
rash; it is transmitted through contaminated food or
water.

Table 4
Mycotic (Fungal) Conditions

DISEASE ORGANISM DESCRIPTION Aspergillosis Aspergillus species
(mold)
This uncommon, opportunistic mold infection by any of
a number of different species has many different forms.
It often affects the ear but can affect any organ, where it
produces characteristic “fungus ball” lesions. If the
infection becomes widespread, it can be fatal.
Blastomycosis Blastomyces
dermatitidis (mold*)
As with histoplasmosis, most cases of blastomycosis are
asymptomatic. The most common symptomatic forms
are skin ulcers and bone lesions, but the infection may
spread to the lungs, kidneys, or nervous system.
Candidiasis Candida albicans and
other species (yeasts)
This opportunistic yeast infection is characterized by a
white discharge, peeling, and bleeding; candidiasis has
several forms, depending on the severity and where it
occurs: thrush (skin), diaper rash (skin), vaginitis,
endocarditis, etc. It can be transmitted sexually, making
it a sexually transmitted disease (STD).
Coccidioidomycosis
(San Joaquin fever)
Coccidioides immitis
(mold*)
Also called desert fever, this condition is endemic to dry
regions of the southwestern United States and Central

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and South America. It is characterized by cold- or
influenza-like symptoms. A small number of cases
develop into more serious infection.
Histoplasmosis Histoplasma
capsulatum (mold*)
Histoplasmosis is a fungal infection most common in the
midwestern United States, where it is spread through
contaminated soil. In most cases, it is asymptomatic, but
acute pneumonia may develop in a few cases.
Mycosis Many types Mycosis is a general term used to describe any disease
caused by fungi. Mycoses is the plural form.
Tinea Epidermophyton,
Microsporum, and
Trichophyton species
(molds)
Examples of opportunistic cutaneous mycoses include
tinea pedis (athlete’s foot), tinea cruris (jock itch), tinea
corporis (body ringworm), tinea capitis (scalp
ringworm), and tinea unguium (nail fungus). All are
characterized by inflammation accompanied by itching,
scaling, and (occasionally) painful lesions.
*These molds are normally multicellular but transform to a unicellular phase when they infect humans.

Table 5
Conditions Caused by Protozoa

DISEASE ORGANISM DESCRIPTION
Amebiasis and
amebic dysentery
Entamoeba histolytica,
Entamoeba polecki, and
other organisms (ameba)
Usually acquired through contaminated food and
water, this condition is an amebic infection of the
intestine or liver. Mild cases are asymptomatic. More
severe forms are characterized by diarrhea, abdominal
pain, jaundice, and weight loss.
Balantidiasis Balantidium coli (ciliate) B. coli can be carried asymptomatically in the
gastrointestinal tract. The disease is characterized by
abdominal pain, nausea, and diarrhea. It may progress
to intestinal ulceration and subsequent secondary
infections.
Giardiasis
(traveler’s
diarrhea)
Giardia lamblia
(flagellate)
Intestinal infection is spread through contaminated
food or water or through person-to-person contact.
Symptoms range from mild diarrhea to malabsorption
syndrome, with about half of all cases being
asymptomatic.
Isosporiasis Isospora belli (sporozoan) Transmitted through contaminated food or oral-anal
sexual contact, isosporiasis is an intestinal infection
that may be asymptomatic. Symptomatic
manifestations range from mild to severe, resembling
giardiasis.
Malaria Plasmodium species
(sporozoa)
This serious disease is caused by blood-cell parasites
that require two hosts: mosquitoes and humans (or
other animals). Malaria is characterized by fever,
anemia, swollen spleen, and possible relapse months
or years later.
Toxoplasmosis Toxoplasma gondii A common infection of blood and other tissue cells,

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(sporozoan) this condition is often asymptomatic. It is transmitted
through cat feces and undercooked meat. It is
characterized by fever, lymphatic involvement,
headache, fatigue, nervous disorders, and heart
problems. If transmitted from mother to fetus, it can
cause congenital defects that often lead to death.
Trichomoniasis Trichomonas vaginalis
(flagellate)
This urogenital infection is asymptomatic in most
female patients and nearly all male patients. Vaginitis
may occur, characterized by itching or burning and a
foul-smelling discharge. It is usually spread through
sexual contact.

Table 6
Conditions Caused by Pathogenic Animals

DISEASE ORGANISM DESCRIPTION Ascariasis (roundworm
infestation)
Ascaris lumbricoides
(nematode)
This condition is transmitted through contaminated
food or contact with contaminated surfaces (such as
hands). Eggs hatch in the small intestine, and the
larvae travel to the lungs, where they cause coughing
and fever. Intestinal and liver involvement may also
be serious.
Bites and stings Arachnida and Insecta Symptoms of bites and stings usually result from
mechanical injury and the release of toxins at the
injury site. Some individuals may be hypersensitive
to certain toxins and thus exhibit an allergic reaction,
perhaps even anaphylaxis and death. Bites and stings
may also transmit pathogens when the culprit is a
vector.
Enterobiasis (pinworm
infestation)
Enterobius
vermicularis
(nematode)
This is a common parasite infestation in which eggs
can be transmitted by contaminated hands (a
common cause of reinfection) or on inhaled dust
particles. The infestation is localized in the large
intestine. The adult female lays eggs around the
outside of the anus, causing itching and possibly
insomnia.
Fish tapeworm
infestation
Diphyllobothrium
latum (platyhelminth)
Spread by eating undercooked, contaminated fish,
this condition is usually asymptomatic but can cause
pernicious anemia if too much vitamin B
12 is
absorbed from the host.
Liver fluke infestation Fasciola hepatica,
Opisthorchis sinensis,
and other organisms
(platyhelminths)
Transmitted through watercress contaminated by
infected snails, especially in sheep-raising regions,
this infestation causes inflammation and swelling of
the liver. The symptoms may progress to include
hepatitis, bile duct obstruction, and secondary
infections.
Pork and beef Taenia solium (pork This infestation is spread by eating undercooked,

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tapeworm infestation tapeworm) and Taenia
saginata (beef
tapeworm)
(platyhelminths)
contaminated pork or beef. Adult tapeworms mature
in the gastrointestinal tract, usually producing mild
symptoms of diarrhea and weight loss. Larvae may
spread to other tissue, sometimes causing serious
infections.
Schistosomiasis (snail
fever)
Schistosoma mansoni,
Schistosoma
japonicum, and
Schistosoma
haematobium
(platyhelminths)
This is a parasitic condition transmitted in the form
of skin-penetrating parasites released by freshwater
snails in water contaminated by human feces.
Characteristics of the disease depend on the organs
involved and the species of fluke.
Trichinosis
(threadworm
infestation)
Trichinella spiralis
(nematode)
This is an infestation characterized by diarrhea,
nausea, and fever, possibly progressing to muscle
pain and fatigue. In severe cases, the heart, lungs,
and brain may become involved, sometimes resulting
in death. The parasite is transmitted through
undercooked pork, bear, and other meats.

Table 7
Conditions Caused by Physical Agents

CONDITION PHYSICAL AGENTS DESCRIPTION Bone fracture Mechanical injury (e.g.,
intense pressure, blow to the
body, and abnormal turn
while bearing weight)
Complete or incomplete break of hard bone tissue in
one or more localized areas is often characterized by
pain, swelling, and limited motion; compound
fractures break the skin and may thus allow infection.
Burn Chemical agents (e.g., acids
and bases), intense heat,
ionizing radiation (e.g., x-
rays and gamma rays), non-
ionizing radiation (e.g.,
ultraviolet), electricity
This is an injury to tissues caused by the factors listed
in which the extent of the injury is proportional to
exposure to the causative agent and percent of body
area affected; it causes “burning” pain and resulting
inflammation response. Untreated or severe burns may
become infected and may cause severe fluid loss.
Cancer Mechanical injury, ionizing
radiation (e.g., x-rays and
gamma rays), non-ionizing
radiation (e.g., ultraviolet),
chemical agents (e.g.,
irritants and carcinogens)
Malignant neoplasm (abnormal tissue growth) is
characterized by invasion of surrounding tissue and
metastasis (spread) to other parts of the body; it often
progresses to death if not treated.
Chronic
obstructive
pulmonary disease
(COPD)
Chemical pollutants (in air),
airborne particulates
This group of disorders is characterized by
progressive, irreversible obstruction of airflow in the
lungs; it includes bronchitis, emphysema, asthma. The
incidence in the U.S. population has increased with
exposure to air pollutants, including cigarette smoke.
Contusion Mechanical injury (e.g.,
blow to the body and
intense pressure)
A contusion is a localized tissue lesion characterized
by breakage of blood vessels and surrounding tissue
cells without external bleeding; it is sometimes called
a bruise.

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Crush syndrome Mechanical pressure
(intense)
This severe, life-threatening condition is characterized
by massive destruction of muscle and bone,
hemorrhage, fluid loss, hypovolemic shock, hematuria
(bloody urine), and kidney failure—often progressing
to coma.
Diarrhea Chemical agents (ingested),
ionizing radiation (e.g., x-
rays and gamma rays)
Frequent passing of loose, watery feces (stools) results
from increased peristalsis (motility) of the colon, in
this case resulting from irritation by physical agents;
the resulting fluid and electrolyte imbalance may
cause dehydration or another life-threatening
condition.
Headache Mechanical injury (e.g.,
blow to the head), chemical
pollutants (e.g., inhaled
organic compounds)
Pain in the head in this case results from injury by the
agents listed.
Hearing
impairment
High-volume (intensity)
sound (e.g., noise pollution)
Chronic exposure to loud noise causes hearing loss
proportional to exposure—resulting from damage to
the organ of Corti.
Hypersensitivity
reaction and
physical allergy
Chemical substances in
environment, light (as in
photosensitivity),
temperature (as in cold or
heat sensitivity)
Inappropriate, intense immune reaction to otherwise
harmless physical agents is characterized by urticaria
(hives), edema, and other allergy symptoms; specific
antigens are usually associated with the reaction.
Laceration Mechanical injury (sharp-
edged object)
This is a mechanical injury in which tissue is cut or
torn, often characterized by bleeding; if untreated, it
may become infected.
Nausea Chemical agents (ingested),
ionizing radiation (e.g., x-
rays and gamma rays)
This is an unpleasant sensation of the gastrointestinal
tract that commonly precedes the urge to vomit (that
is, “upset stomach”).
Pneumonia Inhaled substances This abnormal condition is characterized by acute
inflammation of the lungs (in this case, triggered by
irritation caused by inhaled substance) in which
alveoli and bronchial passages become plugged with
thick fluid (exudate).
Poisoning Naturally occurring toxins,
synthetic toxins, drugs (e.g.,
abuse, overdose, toxic
interaction), environmental
pollutants (e.g., air, water)
This condition results from exposure to a poison or
toxin—a substance that impairs health or destroys life;
effects may be local or systemic. Sometimes antidotes
reverse toxicity, but sometimes the condition is
irreversible. The toxin may be ingested, injected,
inhaled, or absorbed through skin or may enter the
body in some other way.
Radiation sickness Ionizing radiation (e.g., x-
rays and gamma rays)
Depending on the length, intensity, and location of
exposure to radiation, this condition may be mild
(headache, nausea, vomiting, anorexia, and diarrhea)
to severe (sterility, fetal injury, cancer, alopecia, and
cataracts); excessive radiation exposure may cause

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death.
Visual impairment Mechanical injury (e.g.,
blow to the head), intense
light (e.g., direct sunlight
and laser), ionizing radiation
(e.g., x-rays and gamma
rays), non-ionizing radiation
(e.g., ultraviolet)
A blow to the head may cause detachment of the
retina; intense light or other radiation may damage
retinal tissue. Radiation may also cloud the lens or
cornea, producing cataracts.
Windburn and
abrasion burn
Abrasives (e.g., windblown
particles and rough surfaces)
This injury is similar to a heat or chemical burn but is
caused by mechanical abrasion of the skin or other
tissues.

Table 8
Endocrine Conditions
CONDITION MECHANISM DESCRIPTION Acromegaly Hypersecretion of growth
hormone (GH) during
adulthood
This is a chronic metabolic disorder
characterized by gradual enlargement or
elongation of facial bones and extremities.
Addison disease Hyposecretion of
adrenocortical hormones
(adrenocortical insufficiency)
Caused by tuberculosis, autoimmunity, or other
factors, this life-threatening condition is
characterized by weakness, anorexia, weight
loss, nausea, irritability, decreased cold
tolerance, dehydration, increased skin
pigmentation, and emotional disturbance; it may
lead to an acute phase (adrenal crisis)
characterized by circulatory shock.
Aldosteronism Hypersecretion of
aldosterone
Often caused by adrenal hyperplasia, this
condition is characterized by sodium retention
and potassium loss—producing Conn syndrome:
severe muscle weakness, hypertension (high
blood pressure), kidney dysfunction, and cardiac
problems.
Cretinism Hyposecretion of thyroid
hormone during early
development
This congenital condition is characterized by
dwarfism, retarded mental development, facial
puffiness, dry skin, umbilical hernia, and lack of
muscle coordination.
Cushing disease Hypersecretion of
adrenocorticotropic hormone
(ACTH)
Caused by secretory adenoma of the anterior
pituitary; increased ACTH causes hypersecretion
of adrenocortical hormones, producing Cushing
syndrome.
Cushing syndrome Hypersecretion (or injection)
of glucocorticoids
This metabolic disorder is characterized by fat
deposits on upper back, striated pad of fat on
chest and abdomen, rounded “moon” face,
muscular atrophy, edema, hypokalemia (low
blood potassium), and possible abnormal skin
pigmentation; it occurs in those with Cushing

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disease.
Diabetes insipidus Hyposecretion of (or
insensitivity to) antidiuretic
hormone (ADH)
This metabolic disorder is characterized by
extreme polyuria (excessive urination) and
polydipsia (excessive thirst) caused by a decrease
in the kidney’s retention of water.
Gestational diabetes
mellitus (GDM)
Temporary decrease in blood
levels of insulin during
pregnancy
This carbohydrate-metabolism disorder occurs in
some pregnant women; it is characterized by
polydipsia, polyuria, overeating, weight loss,
fatigue, and irritability.
Gigantism Hypersecretion of GH before
age 25
This condition is characterized by extreme
skeletal size caused by excess protein anabolism
during skeletal development.
Graves disease (GD) Hypersecretion of thyroid
hormone
This inherited, possibly autoimmune disease is
characterized by hyperthyroidism.
Hashimoto disease Autoimmune damage to
thyroid causing
hyposecretion of thyroid
hormone
Enlargement of thyroid (goiter) is sometimes
accompanied by hypothyroidism, typically
occurring between ages 30 and 50; it is 20 times
more common in females than in males.
Hyperparathyroidism Hypersecretion of
parathyroid hormone (PTH)
This condition is characterized by increased
reabsorption of calcium from bone tissue and
kidneys and increased absorption by the
gastrointestinal tract; it produces hypercalcemia,
resulting in confusion, anorexia, abdominal pain,
muscle pain, and fatigue, possibly progressing to
circulatory shock, kidney failure, and death.
Hyperthyroidism
(adult)
Hypersecretion of thyroid
hormone
This condition, characterized by nervousness,
exophthalmos (protruding eyes), tremor, weight
loss, excessive hunger, fatigue, heat intolerance,
heart arrhythmia, and diarrhea, is caused by a
general acceleration of body function.
Hypothyroidism
(adult)
Hyposecretion of thyroid
hormone
This condition, characterized by sluggishness,
weight gain, skin dryness, constipation, arthritis,
and general slowing of body function, may lead
to myxedema, coma, or death if untreated.
Insulin shock Hypersecretion (or overdose
injection) of insulin,
decreased food intake, and
excessive exercise
Hypoglycemic (low blood glucose) shock is
characterized by nervousness, sweating and
chills, irritability, hunger, and pallor—
progressing to convulsion, coma, and death if
untreated.
Myxedema Extreme hyposecretion of
thyroid hormone during
adulthood
This is a severe form of adult hypothyroidism
characterized by edema of the face and
extremities, often progressing to coma and death.
Osteoporosis Hyposecretion of estrogen in
postmenopausal women
This bone disorder is characterized by loss of
minerals and collagen from bone matrix,
producing holes or porosities that weaken the
skeleton.

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Pituitary dwarfism Hyposecretion of GH before
age 25
This condition is characterized by reduced
skeletal size caused by decreased protein
anabolism during skeletal development.
Simple goiter Lack of iodine in diet Enlargement of thyroid tissue results from the
inability of the thyroid to make thyroid hormone
because of a lack of iodine; a positive-feedback
situation develops in which low thyroid hormone
levels trigger hypersecretion of thyroid-
stimulating hormone (TSH) by the pituitary,
which stimulates thyroid growth.
Sterility Hyposecretion of sex
hormones
This is a loss of reproductive function.
Type 1 diabetes
mellitus (type 1 DM)
Hyposecretion of insulin This inherited condition with sudden childhood
onset is characterized by polydipsia, polyuria,
overeating, weight loss, fatigue, and irritability
resulting from the inability of cells to secure and
metabolize carbohydrates.
Type 2 diabetes
mellitus (type 2 DM)
Insensitivity of target cells to
insulin
This carbohydrate-metabolism disorder with
slow adult onset is thought to be caused by a
combination of genetic and environmental
factors and characterized by polydipsia, polyuria,
overeating, weight loss, fatigue, and irritability.
Winter (seasonal
affective disorder
[SAD]) depression
Hypersecretion of (or
hypersensitivity to)
melatonin
This abnormal emotional state is characterized
by sadness and melancholy resulting from
exaggerated melatonin effects; melatonin levels
are inhibited by sunlight so they increase when
day length decreases during winter.

Table 9
Autoimmune Diseases
DISEASE POSSIBLE SELF-
ANTIGEN
DESCRIPTION
Addison disease Surface antigens on
adrenal cells
Hyposecretion of adrenal hormones results in
weakness, reduced blood sugar, nausea, loss of
appetite, and weight loss.
Cardiomyopathy Cardiac muscle Disease of cardiac muscle (that is, the myocardium)
results in a loss of pumping efficiency (heart failure).
Diabetes mellitus
(type 1)
Pancreatic islet cells,
insulin, and insulin
receptors
Hyposecretion of insulin by the pancreas results in
extremely elevated blood glucose levels (in turn
causing a host of metabolic problems, even death if
untreated).
Glomerulonephritis Blood antigens that form
immune complexes that
are deposited in kidney
Disease of the filtration apparatus of the kidney (renal
corpuscle) results in fluid and electrolyte imbalance
and possibly total kidney failure and death.
Hemolytic anemia Surface antigens on red
blood cells (RBCs)
Condition of low RBC count in the blood results from
excessive destruction of mature RBCs (hemolysis).

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Graves disease
(type of
hyperthyroidism)
Thyroid-stimulating
hormone (TSH) receptors
on thyroid cells
Hypersecretion of thyroid hormone results in increase
in metabolic rate.
Multiple sclerosis Antigens in myelin
sheaths of nervous tissue
Progressive degeneration of myelin sheaths results in
widespread impairment of nerve function (especially
muscle control).
Myasthenia gravis Antigens at
neuromuscular junction
Muscle disorder is characterized by progressive
weakness and chronic fatigue.
Myxedema Antigens in thyroid cells Hyposecretion of thyroid hormone in adulthood
causes decreased metabolic rate; it is characterized by
reduced mental and physical vigor, weight gain, hair
loss, and edema.
Pernicious anemia Antigens on gastric
parietal cells and intrinsic
factor
Abnormally low RBC count results from the inability
to absorb vitamin B
12, a substance critical to RBC
production. Reproductive
infertility
Antigens on sperm or
tissue surrounding ovum
(egg)
This is an inability to produce offspring (in this case,
resulting from destruction of gametes).
Rheumatic fever Cardiac cell membranes
(cross-reaction with
group A streptococcal
antigen)
This causes rheumatic heart disease and inflammatory
cardiac damage (especially to the endocardium or
valves).
Rheumatoid
arthritis
Collagen Inflammatory joint disease is characterized by
synovial inflammation that spreads to other fibrous
tissues.
Systemic lupus
erythematosus
Numerous Chronic inflammatory disease has widespread effects
and is characterized by arthritis, a red rash on the
face, and other signs.
Ulcerative colitis Mucous cells of colon Chronic inflammatory disease of the colon is
characterized by watery diarrhea containing blood,
mucus, and pus.

Table 10
Deficiency Diseases*
CONDITION DEFICIENT
SUBSTANCE
DESCRIPTION
Avitaminosis K Vitamin K This occurs almost exclusively in children and is
characterized by an impaired blood-clotting ability.
Beriberi Vitamin B 1 (thiamine) Peripheral nerve condition is characterized by diarrhea,
fatigue, anorexia, edema, heart failure, and limb paralysis
leading to muscle atrophy.
Folate-deficiency
anemia
Folic acid Blood disorder is characterized by a decrease in red blood
cell (RBC) count.
Iron deficiency
anemia
Iron (Fe) Blood disorder is characterized by a decrease in size and
pigmentation of RBCs that causes fatigue and pallor.
Kwashiorkor Protein and calories This form of protein-calorie malnutrition is characterized

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by wasting of muscle and subcutaneous tissue,
dehydration, lethargy, edema and ascites, and retarded
growth; it is caused by deficiency of proteins in the
presence of adequate caloric intake (see marasmus).
Marasmus Protein and calories This form of protein-calorie malnutrition is characterized
by progressive wasting of muscle and subcutaneous tissue
accompanied by fluid and electrolyte imbalances; it is
caused by deficiency of both protein and calories (see
kwashiorkor).
Night blindness
(nyctalopia)
Vitamin A Relative inability to see in dim light results from failure
to produce sufficient photopigment in the rods of the
retina.
Osteomalacia Vitamin D, calcium
(Ca), and/or
phosphorus (P)
Adult form of rickets is characterized by reduced
mineralization of bone tissue accompanied by weakness,
pain, anorexia, and weight loss.
Pellagra Vitamin B 3 (niacin) or
tryptophan (an amino
acid)
Disease is characterized by sun-sensitive scaly dermatitis,
inflammation of mucosa, diarrhea, confusion, and
depression.
Pernicious anemia Vitamin B 12 Blood disorder is characterized by a reduced number of
RBCs, causing weakness, pallor, tingling of the
extremities, and anorexia.
Protein-calorie
malnutrition
(PCM)
Protein and calories Abnormal condition resulting from dietary deficiency of
calories in general and protein in particular; its forms
include kwashiorkor and marasmus.
Rickets Vitamin D, calcium
(Ca), and/or
phosphorus (P)
Juvenile form of osteomalacia is characterized by
weakness and abnormal skeletal formation resulting from
reduced mineralization of bone tissue.
Scurvy Vitamin C Reduced manufacture and maintenance of collagen and
other functions results in weakness, anemia, edema,
weakness of gingiva and loosening of teeth, and
hemorrhaging (especially in skin and mucous
membranes).
Simple goiter Iodine (I) Enlargement of thyroid tissue results from inability of
thyroid to make thyroid hormone because of lack of
iodine; positive-feedback situation develops: low thyroid
hormone levels trigger hypersecretion of thyroid-
stimulating hormone (TSH) by pituitary, which stimulates
thyroid growth.
Zinc deficiency Zinc (Zn) Condition is characterized by fatigue, decreased alertness,
retarded growth, decreased smell and taste sensitivity,
and impaired healing and immunity.
*Deficiency may be caused by dietary deficiency or an inability to absorb or chemically process the listed
substances.


Table 11
Genetic Conditions

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CHROMOSOME
LOCATION
DISEASE DESCRIPTION
SINGLE-GENE INHERITANCE (NUCLEAR DNA)
Dominant
7, 17 Osteogenesis imperfecta Group of connective tissue disorders is characterized
by imperfect skeletal development that produces
brittle bones.
17 Multiple neurofibromatosis Disorder is characterized by multiple, sometimes
disfiguring benign tumors of the Schwann cells
(neuroglia) that surround nerve fibers.
5 Hypercholesterolemia High blood cholesterol may lead to atherosclerosis
and other cardiovascular problems.
4 Huntington disease (HD) Degenerative brain disorder is characterized by
chorea (purposeless movements) progressing to
severe dementia and death by age 55.
Co-dominant
11 Sickle cell anemia
Sickle cell trait
Blood disorder in which abnormal hemoglobin is
produced, causing red blood cells (RBCs) to deform
into a sickle shape; sickle cell anemia is the severe
form, and sickle cell trait is the milder form.
11, 16 Thalassemia Group of inherited hemoglobin disorders is
characterized by production of hypochromic,
abnormal RBCs.
Recessive (Autosomal)
7 Cystic fibrosis (CF) Condition is characterized by excessive secretion of
thick mucus and concentrated sweat, often causing
obstruction of the gastrointestinal or respiratory
tracts.
15 Tay-Sachs disease Fatal condition in which abnormal lipids accumulate
in the brain and cause tissue damage; leads to death
by age 4.
12 Phenylketonuria (PKU) Excess of phenylketone in the urine is caused by
accumulation of phenylalanine in the tissues; it may
cause brain injury and death if phenylalanine (amino
acid) intake is not managed properly.
11 Albinism (total) Lack of the dark brown pigment melanin in the skin
and eyes results in vision problems and susceptibility
to sunburn and skin cancer.
20 Severe combined immune
deficiency (SCID)
Failure of the lymphocytes to develop properly
causes failure of the immune system’s defense of the
body; it is usually caused by adenosine deaminase
(ADA) deficiency.
Recessive (X-Linked)
23 (X) Hemophilia Group of blood clotting disorders is caused by a
failure to form clotting factors VIII, IX, or XI.

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23 (X) Duchenne muscular
dystrophy (DMD)
Muscle disorder is characterized by progressive
atrophy of skeletal muscle without nerve
involvement.
23 (X) Red-green color blindness Inability to distinguish red and green light results
from a deficiency of photopigments in the cone cells
of the retina.
23 (X) Fragile X syndrome Mental retardation results from breakage of X
chromosome in males.
23 (X) Ocular albinism Form of albinism in which the pigmented layers of
the eyeball lack melanin; results in hypersensitivity
to light and other problems.
23 (X) Androgen insensitivity Inherited insensitivity to androgens (steroid sex
hormones associated with maleness) results in
reduced effects of these hormones.
23 (X) Cleft palate (X-linked
form)
One form of a congenital deformity in which the
skull fails to develop properly; it is characterized by
a gap in the palate (plate separating mouth from
nasal cavity).
23 (X) Retinitis pigmentosa Condition causes blindness, characterized by clumps
of melanin in retina of eyes.
SINGLE-GENE INHERITANCE (MITOCHONDRIAL DNA)
mDNA Leber hereditary optic
neuropathy
Optic nerve degeneration in young adults results in
total blindness by age 30.
mDNA Parkinson disease (?) Nervous disorder is characterized by involuntary
trembling and muscle rigidity.
CHROMOSOMAL ABNORMALITIES
Trisomy

21 Down syndrome Condition is characterized by mental retardation and
multiple structural defects.
23 Klinefelter syndrome Condition is caused by the presence of two or more
X chromosomes in a male (XXY); it is characterized
by long legs, enlarged breasts, low intelligence,
small testes, sterility, and chronic pulmonary disease.
Monosomy
23 Turner syndrome Condition is caused by monosomy of the X
chromosome (XO); it is characterized by immaturity
of sex organs (causing sterility), webbed neck,
cardiovascular defects, and learning disorders.