Trip M D, Lansberg P J, de Jongh S, Kastelein J J
Afd. Cardiologie, Academisch Medisch Centrum, DD Amsterdam.
Ned Tijdschr Geneeskd. 2000 Jul 22;144(30):1425-8.
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.
一名35岁男性和一名30岁女性因总胆固醇水平升高前往血脂诊所就诊,他们的一些一级亲属也存在这种情况。除了血脂异常外,他们没有冠心病的危险因素。两人均被证实患有家族性高胆固醇血症。该男性有模糊的心绞痛症状,于是给他开了高剂量的胆固醇合成抑制剂。冠状动脉造影显示严重狭窄;成功进行了冠状动脉球囊血管成形术。然而,该女性在33岁时突然死于心肌梗死。家族性高胆固醇血症可能导致年轻人出现意想不到的心血管并发症和猝死。根据充分的病史和全面的体格检查及时诊断该病,更快地给予降胆固醇药物,并对心绞痛症状保持警惕,可能会预防这些患者发生心肌梗死并挽救生命。