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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.
-
-