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$Unique_ID{BRK03837}
$Pretitle{}
$Title{Hypercholesterolemia}
$Subject{Hypercholesterolemia High Cholesterol High Blood Cholesterol
Hyperlipidema High Serum Cholesterol Hyperlipoproteinemia IV Broad Beta
Disease Homozygous Familial Hypercholesterolemia Familial Hypertriglyceridemia
}
$Volume{}
$Log{}
Copyright (C) 1991 National Organization for Rare Disorders, Inc.
811:
Hypercholesterolemia
** IMPORTANT **
It is possible that the main title of the article (Hypercholesterolemia)
is not the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
High Cholesterol
High Blood Cholesterol
Hyperlipidema
High Serum Cholesterol
Information on the following diseases can be found in the Related
Disorders section of this report:
Hyperlipoproteinemia IV
Broad Beta Disease
Homozygous Familial Hypercholesterolemia
Familial Hypertriglyceridemia
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
Hypercholesterolemia means unusually high cholesterol. It is a very
common disorder characterized by a high accumulation of fats in the blood.
It is one of the leading causes of atherosclerosis (fatty obstruction of the
blood vessels), heart attack and stroke. High cholesterol is the leading
health problem in the United States and other Western countries accounting
for 50% of all deaths. This disorder appears to get worse with advancing
age, although in rare cases children can also be affected.
Symptoms
Hypercholesterolemia does not have noticeable symptoms of its own. It must
be detected through serum blood screening. If an abnormally high level of
triglycerides or cholesterol occurs in the blood then the patient is
diagnosed as having Hypercholesterolemia. It is difficult to determine what
an ideal serum cholesterol should be, but most scientists agree that
Hypercholesterolemia exists when a person's blood cholesterol exceeds 240
mg/dl. High blood cholesterol causes atherosclerosis, heart attack and
stroke. In some of the rarer forms, genetic lipid (fat) disorders can cause
or intensify other diseases such as pancreatitis, xanthomas (fatty deposits
under the skin), enlarged spleen or liver, eye problems and diabetes.
Causes
There are many causes of Hypercholesterolemia including high dietary fat
consumption, genetic predisposition, metabolic disorders and it can occur as
a side effect of certain drugs.
Some of the rarer forms of Hypercholesterolemia such as the primary
Hyperlipoproteinemias Types I, II, III, IV, and V are inherited. These types
of Hypercholesterolemia may or may not increase the person's risk for
coronary artery disease, and are often found in very young children as well
as young adults. Homozygous Familial Hypercholesterolemia is a very rare form
of hereditary high cholesterol that usually affects very young children.
Affected Population
Hypercholesterolemia is a very prevalent disorder that affects males and
females in equal numbers. However, it is more prevalent in older persons who
are obese, diabetic or genetically predisposed to the disorder.
Related Disorders
Symptoms of the following disorders can be similar to those of
Hypercholesterolemia. Comparisons may be useful for a differential
diagnosis:
Hyperlipoproteinemia Type IV is characterized by an abnormally high level
of cholesterol or triglycerides in the blood. Glucose (sugar) tolerance is
usually also impaired. Eruptive fatty nodules or plaques in the skin
(xanthomas) may develop on the buttocks, arms or legs. Hyperlipoproteinemia
usually accelerates fatty degeneration of blood vessels, and coronary heart
disease frequently develops. The liver and spleen may also become enlarged.
(For more information on this disorder, choose "Hyperlipoproteinemia, Type
IV" as your search term in the Rare Disease Database).
Broad Beta Disease (Hyperlipoproteinemia, Type III) is a hereditary
disorder of fat (lipid) transport characterized by areas of lipid deposits
(xanthomas) under certain parts of the skin. Patients with this disorder
have a predisposition to obesity and fatty degeneration of blood vessels
(atherosclerosis) which leads to blockage of blood vessels. With control of
dietary lipids, persons affected with Broad Beta Disease can lead a normal
life. (For more information on this disorder, choose "Broad Beta Disease" as
your search term in the Rare Disease Database).
Homozygous Familial Hypercholesterolemia is a very rare hereditary form
of high cholesterol that affects 1 in 1 million Americans. The disorder is
inherited through autosomal dominant genes. It is usually unresponsive to
standard dietary and drug interventions. Onset is during early childhood,
with the youngest patient having a heart attack at 18 months of age.
Familial Hypertriglyceridemia is a genetic form of faulty lipid
metabolism. There is increased levels of triglycerides in the blood serum.
However, unlike other forms of Hypercholesterolemias, this type of
hypercholesterolemia does not cause an increased predisposition for coronary
artery disease, obesity or diabetes.
Therapies: Standard
Treatment of Hypercholesterolemia consists of following a diet reduced in
saturated fats, cholesterol and calories, but high in water-soluble fiber.
Drugs may also be required to lower cholesterol levels when diet alone is not
effective. For information about appropriate low cholesterol diets contact
the American Heart Association which is listed in the resources section of
this report.
Therapies: Investigational
Researchers are studying the factors that may cause high cholesterol, and
they are trying to develop new treatments that can control the disorder.
More research is needed to determine hereditary factors, effects of diet and
other causes that may trigger hypercholesterolemia.
This disease entry is based upon medical information available through
April 1991. Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.
Resources
For more information on Hypercholesterolemia, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
American Heart Association
7320 Greenville Ave.
Dallas, TX 75231
(214) 750-5300
NIH/National Heart, Blood & Lung Institute
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
For information on genetic forms of Hypercholesterolemia and genetic
counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
CECIL TEXTBOOK OF MEDICINE, 18th Ed.: edited by James B. Wyngaarden,
M.D. and LLoyd H. Smith, Jr., M.D. W.B. Saunders Company, 1988. Pp. 1137-
1144.
USE OF DIETARY FIBER TO LOWER CHOLESTEROL, J. Nuovo, Am Fam Physician,
(April, 1989, issue 39 (4)). Pp. 137-140.
POPULATION SCREENING FOR PLASMA CHOLESTEROL; COMMUNITY-BASED RESULTS FROM
CONNECTICUT. E.L. Wynder, et al,; Am Heart J, (March, 1989, issue 117 (3)).
Pp. 649-456.
HYPERCHOLESTEROLEMIA; PREVENTION, DETECTION AND MANAGEMENT. A. H.
Schultheis, Nurse Pract, (January, 1990, issue 15 (1)). Pp. 40-46, 51-56.
41 MONTH FOLLOW-UP OF RISK FACTORS CORRELATED WITH NEW CORONARY EVENTS IN
708 ELDERLY PATIENTS., W. S. Aronow, et al,; J Am Geriatr Soc, (June, 1989,
issue 37 (6)). Pp. 501-506.