Get answers to your heart disease prevention questions.
Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation
The goal of treatment is to reduce the risk of atherosclerotic heart disease. Those who inherit only one copy of the defective gene may respond well to diet changes combined with statin drugs.
The first step is to change what you eat. This is tried for several months before drug therapy is added. Diet changes include reducing total fat intake to less than 30% of the total calories you eat.
You can reduce your saturated fat intake by:
You can reduce your the amount of cholesterol you eat by eliminating egg yolks and organ meats.
Dietary counseling is often recommended to help people make these adjustments to their eating habits. Weight loss and regular exercise may also aid in lowering cholesterol levels.
See also: Heart disease and diet
If lifestyle changes do not change your cholesterol levels, your doctor may recommend medication. There are several types of drugs available to help lower blood cholesterol levels, and they work in different ways. Some are better at lowering LDL cholesterol, some are good at lowering triglycerides, while others help raise HDL cholesterol.
The most commonly used and effective drugs for treating high LDL cholesterol are called statins. The include lovastatin (Mevacor), pravastatin (Pravachol), simvastatin (Zocor), fluvastatin (Lescol), atorvastatin (Lipitor), and rosuvastatin (Crestor).
Other cholesterol-lowering medicines include:
Those with more severe forms of this disorder may need a treatment called extracorporeal apheresis. This is the most effective treatment. Blood or plasma is removed from the body. Special filters then remove the extra LDL-cholesterol, and the blood plasma is then returned.
How well you do greatly depends on whether or not you follow your doctor's treatment recommendations. Diet changes, exercise, and medications can lower cholesterol levels for those with the milder form of this disorder, and may significantly delay a heart attack.
Men and women with familial hypercholesterolemia typically are at increased risk of early heart attacks.
Risk of death varies among patients with familial hypercholesterolemia. Persons who inherit two copies of the defective gene have a poorer outcome. That type of familial hypercholesterolemia causes early heart attacks and is resistant to treatment.
Seek immediate medical care if you have chest pain or other warning signs of heart attacks.
Call for an appointment with your health care provider if you have a personal or family history of high cholesterol levels.
Genest J, Libby P. Lipoprotein disorders and cardiovascular disease In: Libby P, Bonow RO, Mann DL, Zipes DP, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 42.
Mahley RW, Weisgraber KH, Bersot TP. Disorders of lipid metabolism. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 36.
Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 217.
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