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[Diagnosis and treatment of severe hyperlipidemia]
Insights
Diagnosing severe hyperlipidaemia is crucial. Familial hypercholesterolaemia and sitosterolemia are key causes, necessitating genetic testing and family screening for effective cardiovascular disease risk management.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Severe hyperlipidaemia, defined as total cholesterol ≥ 13 mmol/l, is uncommon but requires accurate diagnosis.
- Early identification is vital for managing associated cardiovascular disease risks.
Observation:
- A study of 57 patients with isolated severe hypercholesterolaemia identified four homozygotes and 48 heterozygotes for familial hypercholesterolaemia.
- One patient was diagnosed with sitosterolemia.
- Heterozygotes presented with 15 distinct LDL receptor mutations, indicating genetic diversity.
Findings:
- Familial hypercholesterolaemia and sitosterolemia are primary causes of severe hypercholesterolaemia.
- Genetic testing for LDL receptor mutations is essential for diagnosis.
- Combined severe hyperlipidaemia is often secondary to conditions like diabetes mellitus.
Implications:
- Genetic screening of relatives is recommended upon diagnosis.
- Treatment of underlying conditions is paramount for combined hyperlipidaemia.
- Additional lipid-lowering therapies may be necessary to mitigate cardiovascular risk, despite current limitations in drug availability in Norway.
Abstract:
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.