[Diagnosis and treatment of severe hyperlipidemia].
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.
Tonstad
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Lipidklinikken Rikshospitalet, Oslo.
Leren
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D000328:Adult; D000924:Anticholesteremic Agents / Q000627:therapeutic use*; D005247:Feeding Behavior; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006950:Hyperlipidemia, Familial Combined / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D000960:Hypolipidemic Agents / Q000627:therapeutic use*; D008019:Life Style; D008297:Male; D008875:Middle Aged
D000924:Anticholesteremic Agents; D000960:Hypolipidemic Agents