$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.