Familiaire hypercholesterolemie: cardiovasculaire complicaties op jonge leeftijd te verwachten en te voorkomen

A man aged 35 and a woman aged 30 visited a lipid clinic because of a raised total cholesterol level, which was also present in a number of first-degree relatives. Apart from the lipid abnormalities they had no risk factors for coronary disease. Both proved to have familial hypercholesterolaemia. The man had vague angina pectoris symptoms and a high dose of cholesterol synthesis inhibitors was prescribed. Coronary angiography showed severe stenoses; a coronary balloon angioplasty was successfully performed. The woman, however, died at age 33 suddenly from myocardial infarction. Familial hypercholesterolaemia may cause unexpected cardiovascular complications and sudden death of young persons. Timely diagnosis of the condition on the basis of adequate anamnesis and thorough physical examination, more rapid administration of cholesterol-lowering agents and alertness for anginous complaints may prevent myocardial infarctions and save lives in these patients