[Familial hypercholesterolemia - do we think enough about this severe disease?].

Abstract excerpt

Familial hypercholesterolemia is the most common genetic metabolic disorder and is associated with significant morbidity and mortality from cardiovascular disease, in particular coronary heart disease (CHD). Gene mutations for LDL receptor, APOB or PCSK9 are the main causes of the disease. The incidence of homozygous form of disease is 1:1000000 and ofheterozygous 1:500. Some of the patients have clinical signs...

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