Tonstad S, Leren T P, Ose L
Lipidklinikken Rikshospitalet, Oslo.
Tidsskr Nor Laegeforen. 1997 Nov 30;117(29):4241-4.
Though severe hyperlipidaemia (total cholesterol level > or = 13 mmol/l in this study) is uncommon, it is important to make a precise diagnosis. We examined 57 patients with isolated severe hypercholesterolaemia. Of these, four were homozygotes for familial hypercholesterolaemia, 48 were heterozygotes for familial hypercholesterolacmia and one had sitosterolemia. The heterozygotes carried 15 different LDL receptor mutations, with no one mutation predominating. When the diagnosis is made, relatives should be given the opportunity to be tested. Combined severe hyperlipidaemia is usually due to a secondary cause, at our clinic, the most common cause is diabetes mellitus. The underlying disease should be treated first. However, many patients will require additional lipid-lowering drugs because the underlying disease may be associated with an increased risk of cardiovascular disease. With the exception of fish oil capsules, drugs that reduce serum triglyceride levels substantially are not registered in Norway at present.
尽管严重高脂血症（本研究中总胆固醇水平≥13 mmol/l）并不常见，但做出准确诊断很重要。我们检查了57例单纯严重高胆固醇血症患者。其中，4例为家族性高胆固醇血症纯合子，48例为家族性高胆固醇血症杂合子，1例患有谷甾醇血症。杂合子携带15种不同的低密度脂蛋白受体突变，没有一种突变占主导。做出诊断后，应给予亲属检测的机会。合并严重高脂血症通常是由继发性原因引起的，在我们诊所，最常见的原因是糖尿病。应首先治疗基础疾病。然而，许多患者将需要额外的降脂药物，因为基础疾病可能与心血管疾病风险增加有关。除鱼油胶囊外，目前挪威尚未注册能大幅降低血清甘油三酯水平的药物。
