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     HDL familial hypercholesterolemia

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dept. of molecular genetics


FH general info
clinical features
LDL receptor
gene mutations

diagnostics

gene polymorphisms
references
working group

 

Treatment of  familial hypercholesterolemia

 

Only an experienced physician can recommend the specific FH treatment (See: Bibliography). For  rare patients with  homozygous FH (prevalence 1:1000000) (See: Clinical features) only lipoprotein (LDL) desorbtion plasmapheresis combined with rather high doses of statins (60-80 mg/day) can be the only effective method of treatment. In contrast, for the common (prevalence 1:500) heterozygous FH (See page: Clinical features) the effective drug treatment was developed. The most effective drugs for treatment of heterozygous FH are statins - specific inhibitors of the cholesterol biosynthesis key enzyme, hydroxymethylglutaryl-coenzymeA-reductase (HMG-CoA-reductase). Usually 40-60 mg statin/day give positive results in heterozygous FH.

Symvastatin (commercial name "Zocor", manufactured by "Merck Sharp and Dohme") is one of the most widely used statins. Atorvastatin (commercial names "Liprimar". "Lipitor") is one of the most effective statins. There is a number of other drugs of the same specificity with different commercial names. The doses of statins necessary for the treatment must be high enough and the treatment must be constant. The doses of statins necessary for the treatment vary depending of statin type and degree of hyperlipidemia in the patient. During the course of treatment by statins the level of the hepatic enzymes - transaminases should be checked.  Provided  myalgia develops, the level of phosphocreatinekinase in the blood should be controlled.

Some other drugs are known to be useful for treatment  of hyperlipidemia (including the fibrates and nicotinic acid derivatives), sometimes in combination with moderate doses of statins. However, in each specific case only the experienced physician can recommend the drug treatment. The hyperlipidemic patients in addition to drug treatment should be also given the low caloric diet poor in animal fats. Treatment of hyperlipidemia, when started not too late, allows avoiding complications of FH, as ischemic heart disease and myocardial infarctions, and in some cases to reverse the development of atherosclerotic lesions.

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