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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 Human Although not identified in the West until 1981, HIV
immunodeficiency immunodeficiency may have existed in Africa for many years. It is
syndrome (AIDS) virus (HIV) 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 Human T-lymphotropic This form of cancer in adults can be caused by the
lymphocytic leukemia virus 1 (HTLV-1) oncovirus (“cancer virus”) HTLV-1. This disease is
(ATLL) 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-zoster virus Chickenpox is usually a childhood infection typically
(varicella) and (VZV) involving blisters and fever. Herpes zoster, commonly
shingles (herpes known as shingles, occurs later (in adulthood) in
zoster) 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 Rhinoviruses This mild, contagious infection is characterized by
upper respiratory nasal inflammation, weakness, cough, and low-grade
infections (URIs) fever. Dozens of different rhinoviruses have been
typed.
Fever blisters and Herpes simplex 1 and 2 This virus causes blisters on the hands or face (fever
herpes blisters) or genitals (genital herpes). The blisters may
disappear temporarily but may reappear, especially as
a result of stress.
Hantavirus Hantavirus This serious viral disease is characterized by fever and
pulmonary syndrome 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; Hepatitis C This viral liver inflammation is transmitted by
non-B) contaminated blood; initially mild cases may become
chronic and over long periods progress to cirrhosis
and liver failure.
Infectious Epstein-Barr virus This acute infection is characterized by fever, sore
mononucleosis (EBV) 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 Rubella virus This contagious infection is characterized by upper
measles) 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, Human Warts are nipple-like neoplasms of the skin. Forty-six
and cervical cancer papillomaviruses HPV types have been identified. HPV types 6 and 11
(HPV) cause genital warts, a common sexually transmitted
disease (STD).

Table 3
Bacterial Conditions
DISEASE ORGANISM DESCRIPTION
Acute bacterial Staphylococcus, This acute inflammation of the conjunctiva covering
conjunctivitis Haemophilus, Proteus, the eye is characterized by a discharge of mucous pus;
and other organisms 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 This is a possibly fatal food poisoning resulting from
(bacillus) 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 Tooth demineralization is caused by acids formed
(coccus) and other when nutrients on the tooth’s surface are metabolized
organisms by bacteria. It can progress to a bacterial invasion of

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the tooth’s pulp cavity and beyond.


Diphtheria Corynebacterium Diphtheria is an acute, contagious disease
diphtheriae (bacillus) 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 Pseudomonas Inflammation of the external ear canal is usually
(swimmer’s ear) aeruginosa, caused by bacteria but can also result from herpes
Staphylococcus aureus, infections, allergy, and other factors.
Streptococcus pyogenes,
etc.
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 This common STD infects primarily the genital and
(coccus) urinary tracts but can affect the throat, conjunctiva, or
lower intestine. It may progress to pelvic
inflammatory disease (see later entry).
Legionnaires Legionella pneumophila This is a type of pneumonia characterized by
disease (bacillus) 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 Although the first cases were known only near Lyme,
(spirochete) 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 Chlamydia trachomatis This chronic STD is characterized by genital ulcers,
venereum (LGV) (small) 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 Meningitis is any inflammation of the meninges
pneumoniae, Neisseria covering the brain and spinal cord. Several different
meningitidis, bacteria can infect the meninges, as can several fungi;
Haemophilus influenzae, the condition can be mild, but if severe, it can cause
and other organisms 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 Neisseria gonorrhoeae PID refers to any extensive inflammation of the
disease (PID) (coccus), Mycoplasma female pelvic structures. Chronic inflammation
hominis (small free- associated with PID can cause tissue damage that
living), and other leads to sterility.
organisms
Pertussis (whooping Bordetella pertussis Pertussis is an acute, contagious infection of the
cough) (bacillus) respiratory tract characterized by coughs that end with
“whooping” respirations.
Pneumonia Streptococcus An acute lung infection that commonly develops after
pneumoniae (coccus) and the flu or some other condition that prevents
other organisms 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 This inflammatory disease results from a delayed
streptococci (cocci) reaction to “strep” infection; it may affect heart,
brain, joints, or skin.
Rocky Mountain Rickettsia rickettsii This sometimes fatal, tick-borne disease is
spotted fever (small) characterized by fever, chills, headache, muscle pain,
(RMSF) rash, constipation, and hemorrhagic lesions; it may
progress to shock and renal failure.
Salmonellosis Salmonella species This type of bacterial gastroenteritis is caused by
(bacilli) ingestion of contaminated food.
Shigellosis Shigella species (bacilli) This common disease is characterized by bloody,
(Shigella dysentery mucous diarrhea, cramps, fever, and fatigue. It can
and bacillary cause dehydration, electrolyte imbalance, and acidosis
dysentery) if not treated. Antibiotic resistant strains of Shigella
organisms make this condition a serious health
threat—especially in areas with poor sanitation.
Staphylococcal Staphylococcus species These bacterial infections are characterized by
infection (cocci) abscesses; one such infection is staphylococcal
scalded skin syndrome (SSSS), a skin disorder of
infants and young children.
Syphilis Treponema pallidum This sexually transmitted disease can affect any
(spirochete) 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 In this acute, sometimes fatal central nervous system
(bacillus) infection, the bacteria usually enter a wound and then
produce a toxin that causes headache, fever, and
painful muscle spasms.
Toxic shock Staphylococcus aureus This acute, severe toxic infection is associated with
syndrome (TSS) strains (cocci) 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 Chlamydia trachomatis This chronic infection of the conjunctiva covering the
(chlamydial (small) eye is characterized by painful inflammation,
conjunctivitis) 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 This chronic infection usually affects the lungs
tuberculosis (pulmonary tuberculosis) and is characterized by
fatigue, dyspnea, and chronic cough and is
transmitted by inhalation or ingestion of bacteria.
Typhoid fever Salmonella typhi Also called enteric fever, this condition is
(bacillus) 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 This uncommon, opportunistic mold infection by any of
(mold) 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 As with histoplasmosis, most cases of blastomycosis are
dermatitidis (mold*) 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 This opportunistic yeast infection is characterized by a
other species (yeasts) 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 Coccidioides immitis Also called desert fever, this condition is endemic to dry
(San Joaquin fever) (mold*) 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 Histoplasmosis is a fungal infection most common in the
capsulatum (mold*) 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, Examples of opportunistic cutaneous mycoses include
Microsporum, and tinea pedis (athlete’s foot), tinea cruris (jock itch), tinea
Trichophyton species corporis (body ringworm), tinea capitis (scalp
(molds) 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 Entamoeba histolytica, Usually acquired through contaminated food and
amebic dysentery Entamoeba polecki, and water, this condition is an amebic infection of the
other organisms (ameba) 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 Giardia lamblia Intestinal infection is spread through contaminated
(traveler’s (flagellate) food or water or through person-to-person contact.
diarrhea) 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 This serious disease is caused by blood-cell parasites
(sporozoa) 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 This urogenital infection is asymptomatic in most
(flagellate) 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 Ascaris lumbricoides This condition is transmitted through contaminated
infestation) (nematode) 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 Enterobius This is a common parasite infestation in which eggs
infestation) vermicularis can be transmitted by contaminated hands (a
(nematode) 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 Diphyllobothrium Spread by eating undercooked, contaminated fish,
infestation latum (platyhelminth) this condition is usually asymptomatic but can cause
pernicious anemia if too much vitamin B12 is
absorbed from the host.
Liver fluke infestation Fasciola hepatica, Transmitted through watercress contaminated by
Opisthorchis sinensis, infected snails, especially in sheep-raising regions,
and other organisms this infestation causes inflammation and swelling of
(platyhelminths) 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 contaminated pork or beef. Adult tapeworms mature
saginata (beef in the gastrointestinal tract, usually producing mild
tapeworm) symptoms of diarrhea and weight loss. Larvae may
(platyhelminths) spread to other tissue, sometimes causing serious
infections.
Schistosomiasis (snail Schistosoma mansoni, This is a parasitic condition transmitted in the form
fever) Schistosoma of skin-penetrating parasites released by freshwater
japonicum, and snails in water contaminated by human feces.
Schistosoma Characteristics of the disease depend on the organs
haematobium involved and the species of fluke.
(platyhelminths)
Trichinosis Trichinella spiralis This is an infestation characterized by diarrhea,
(threadworm (nematode) nausea, and fever, possibly progressing to muscle
infestation) 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., Complete or incomplete break of hard bone tissue in
intense pressure, blow to the one or more localized areas is often characterized by
body, and abnormal turn pain, swelling, and limited motion; compound
while bearing weight) fractures break the skin and may thus allow infection.
Burn Chemical agents (e.g., acids This is an injury to tissues caused by the factors listed
and bases), intense heat, in which the extent of the injury is proportional to
ionizing radiation (e.g., x- exposure to the causative agent and percent of body
rays and gamma rays), non- area affected; it causes “burning” pain and resulting
ionizing radiation (e.g., inflammation response. Untreated or severe burns may
ultraviolet), electricity become infected and may cause severe fluid loss.
Cancer Mechanical injury, ionizing Malignant neoplasm (abnormal tissue growth) is
radiation (e.g., x-rays and characterized by invasion of surrounding tissue and
gamma rays), non-ionizing metastasis (spread) to other parts of the body; it often
radiation (e.g., ultraviolet), progresses to death if not treated.
chemical agents (e.g.,
irritants and carcinogens)
Chronic Chemical pollutants (in air), This group of disorders is characterized by
obstructive airborne particulates progressive, irreversible obstruction of airflow in the
pulmonary disease lungs; it includes bronchitis, emphysema, asthma. The
(COPD) incidence in the U.S. population has increased with
exposure to air pollutants, including cigarette smoke.
Contusion Mechanical injury (e.g., A contusion is a localized tissue lesion characterized
blow to the body and by breakage of blood vessels and surrounding tissue
intense pressure) cells without external bleeding; it is sometimes called
a bruise.

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Crush syndrome Mechanical pressure This severe, life-threatening condition is characterized


(intense) 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), Frequent passing of loose, watery feces (stools) results
ionizing radiation (e.g., x- from increased peristalsis (motility) of the colon, in
rays and gamma rays) 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., Pain in the head in this case results from injury by the
blow to the head), chemical agents listed.
pollutants (e.g., inhaled
organic compounds)
Hearing High-volume (intensity) Chronic exposure to loud noise causes hearing loss
impairment sound (e.g., noise pollution) proportional to exposure—resulting from damage to
the organ of Corti.
Hypersensitivity Chemical substances in Inappropriate, intense immune reaction to otherwise
reaction and environment, light (as in harmless physical agents is characterized by urticaria
physical allergy photosensitivity), (hives), edema, and other allergy symptoms; specific
temperature (as in cold or antigens are usually associated with the reaction.
heat sensitivity)
Laceration Mechanical injury (sharp- This is a mechanical injury in which tissue is cut or
edged object) torn, often characterized by bleeding; if untreated, it
may become infected.
Nausea Chemical agents (ingested), This is an unpleasant sensation of the gastrointestinal
ionizing radiation (e.g., x- tract that commonly precedes the urge to vomit (that
rays and gamma rays) 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, This condition results from exposure to a poison or
synthetic toxins, drugs (e.g., toxin—a substance that impairs health or destroys life;
abuse, overdose, toxic effects may be local or systemic. Sometimes antidotes
interaction), environmental reverse toxicity, but sometimes the condition is
pollutants (e.g., air, water) 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- Depending on the length, intensity, and location of
rays and gamma rays) 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., A blow to the head may cause detachment of the
blow to the head), intense retina; intense light or other radiation may damage
light (e.g., direct sunlight retinal tissue. Radiation may also cloud the lens or
and laser), ionizing radiation cornea, producing cataracts.
(e.g., x-rays and gamma
rays), non-ionizing radiation
(e.g., ultraviolet)
Windburn and Abrasives (e.g., windblown This injury is similar to a heat or chemical burn but is
abrasion burn particles and rough surfaces) caused by mechanical abrasion of the skin or other
tissues.

Table 8
Endocrine Conditions
CONDITION MECHANISM DESCRIPTION
Acromegaly Hypersecretion of growth This is a chronic metabolic disorder
hormone (GH) during characterized by gradual enlargement or
adulthood elongation of facial bones and extremities.
Addison disease Hyposecretion of Caused by tuberculosis, autoimmunity, or other
adrenocortical hormones factors, this life-threatening condition is
(adrenocortical insufficiency) 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 Often caused by adrenal hyperplasia, this
aldosterone 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 This congenital condition is characterized by
hormone during early dwarfism, retarded mental development, facial
development puffiness, dry skin, umbilical hernia, and lack of
muscle coordination.
Cushing disease Hypersecretion of Caused by secretory adenoma of the anterior
adrenocorticotropic hormone pituitary; increased ACTH causes hypersecretion
(ACTH) of adrenocortical hormones, producing Cushing
syndrome.
Cushing syndrome Hypersecretion (or injection) This metabolic disorder is characterized by fat
of glucocorticoids 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 This metabolic disorder is characterized by
insensitivity to) antidiuretic extreme polyuria (excessive urination) and
hormone (ADH) polydipsia (excessive thirst) caused by a decrease
in the kidney’s retention of water.
Gestational diabetes Temporary decrease in blood This carbohydrate-metabolism disorder occurs in
mellitus (GDM) levels of insulin during some pregnant women; it is characterized by
pregnancy polydipsia, polyuria, overeating, weight loss,
fatigue, and irritability.
Gigantism Hypersecretion of GH before This condition is characterized by extreme
age 25 skeletal size caused by excess protein anabolism
during skeletal development.
Graves disease (GD) Hypersecretion of thyroid This inherited, possibly autoimmune disease is
hormone characterized by hyperthyroidism.
Hashimoto disease Autoimmune damage to Enlargement of thyroid (goiter) is sometimes
thyroid causing accompanied by hypothyroidism, typically
hyposecretion of thyroid occurring between ages 30 and 50; it is 20 times
hormone more common in females than in males.
Hyperparathyroidism Hypersecretion of This condition is characterized by increased
parathyroid hormone (PTH) 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 Hypersecretion of thyroid This condition, characterized by nervousness,
(adult) hormone 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 Hyposecretion of thyroid This condition, characterized by sluggishness,
(adult) hormone 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 Hypoglycemic (low blood glucose) shock is
injection) of insulin, characterized by nervousness, sweating and
decreased food intake, and chills, irritability, hunger, and pallor—
excessive exercise progressing to convulsion, coma, and death if
untreated.
Myxedema Extreme hyposecretion of This is a severe form of adult hypothyroidism
thyroid hormone during characterized by edema of the face and
adulthood extremities, often progressing to coma and death.
Osteoporosis Hyposecretion of estrogen in This bone disorder is characterized by loss of
postmenopausal women minerals and collagen from bone matrix,
producing holes or porosities that weaken the
skeleton.

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Pituitary dwarfism Hyposecretion of GH before This condition is characterized by reduced


age 25 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 This is a loss of reproductive function.
hormones
Type 1 diabetes Hyposecretion of insulin This inherited condition with sudden childhood
mellitus (type 1 DM) 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 Insensitivity of target cells to This carbohydrate-metabolism disorder with
mellitus (type 2 DM) insulin 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 Hypersecretion of (or This abnormal emotional state is characterized
affective disorder hypersensitivity to) by sadness and melancholy resulting from
[SAD]) depression melatonin 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- DESCRIPTION
ANTIGEN
Addison disease Surface antigens on Hyposecretion of adrenal hormones results in
adrenal cells 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 Pancreatic islet cells, Hyposecretion of insulin by the pancreas results in
(type 1) insulin, and insulin extremely elevated blood glucose levels (in turn
receptors causing a host of metabolic problems, even death if
untreated).
Glomerulonephritis Blood antigens that form Disease of the filtration apparatus of the kidney (renal
immune complexes that corpuscle) results in fluid and electrolyte imbalance
are deposited in kidney and possibly total kidney failure and death.
Hemolytic anemia Surface antigens on red Condition of low RBC count in the blood results from
blood cells (RBCs) excessive destruction of mature RBCs (hemolysis).

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Graves disease Thyroid-stimulating Hypersecretion of thyroid hormone results in increase


(type of hormone (TSH) receptors in metabolic rate.
hyperthyroidism) on thyroid cells
Multiple sclerosis Antigens in myelin Progressive degeneration of myelin sheaths results in
sheaths of nervous tissue widespread impairment of nerve function (especially
muscle control).
Myasthenia gravis Antigens at Muscle disorder is characterized by progressive
neuromuscular junction 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 Abnormally low RBC count results from the inability
parietal cells and intrinsic to absorb vitamin B12, a substance critical to RBC
factor production.
Reproductive Antigens on sperm or This is an inability to produce offspring (in this case,
infertility tissue surrounding ovum resulting from destruction of gametes).
(egg)
Rheumatic fever Cardiac cell membranes This causes rheumatic heart disease and inflammatory
(cross-reaction with cardiac damage (especially to the endocardium or
group A streptococcal valves).
antigen)
Rheumatoid Collagen Inflammatory joint disease is characterized by
arthritis synovial inflammation that spreads to other fibrous
tissues.
Systemic lupus Numerous Chronic inflammatory disease has widespread effects
erythematosus 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 DESCRIPTION
SUBSTANCE
Avitaminosis K Vitamin K This occurs almost exclusively in children and is
characterized by an impaired blood-clotting ability.
Beriberi Vitamin B1 (thiamine) Peripheral nerve condition is characterized by diarrhea,
fatigue, anorexia, edema, heart failure, and limb paralysis
leading to muscle atrophy.
Folate-deficiency Folic acid Blood disorder is characterized by a decrease in red blood
anemia cell (RBC) count.
Iron deficiency Iron (Fe) Blood disorder is characterized by a decrease in size and
anemia 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 Vitamin A Relative inability to see in dim light results from failure
(nyctalopia) to produce sufficient photopigment in the rods of the
retina.
Osteomalacia Vitamin D, calcium Adult form of rickets is characterized by reduced
(Ca), and/or mineralization of bone tissue accompanied by weakness,
phosphorus (P) pain, anorexia, and weight loss.
Pellagra Vitamin B3 (niacin) or Disease is characterized by sun-sensitive scaly dermatitis,
tryptophan (an amino inflammation of mucosa, diarrhea, confusion, and
acid) depression.
Pernicious anemia Vitamin B12 Blood disorder is characterized by a reduced number of
RBCs, causing weakness, pallor, tingling of the
extremities, and anorexia.
Protein-calorie Protein and calories Abnormal condition resulting from dietary deficiency of
malnutrition calories in general and protein in particular; its forms
(PCM) include kwashiorkor and marasmus.
Rickets Vitamin D, calcium Juvenile form of osteomalacia is characterized by
(Ca), and/or weakness and abnormal skeletal formation resulting from
phosphorus (P) 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 DISEASE DESCRIPTION


LOCATION
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 Blood disorder in which abnormal hemoglobin is
Sickle cell trait 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 Failure of the lymphocytes to develop properly
deficiency (SCID) 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 Muscle disorder is characterized by progressive


dystrophy (DMD) 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 One form of a congenital deformity in which the
form) 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 Optic nerve degeneration in young adults results in
neuropathy 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.

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