Screening relatives for familial hypercholesterolaemia can detect new patients

Familial hypercholesterolaemia is a dominantly inherited disorder affecting 1 in 500 people. Cholesterol concentrations are raised throughout life leading to early onset coronary heart disease. On p 1497 Bhatnagar et al report on the family screening of known cases of familial hypercholesterolaemia undertaken by nurses in two lipid clinics. The screening yielded 121 newly detected patients with familial hypercholesterolaemia from 200 cholesterol tests, whereas 60 000 tests would have been required to identify this number by general population screening. Other cardiovascular risk factors, such as high blood pressure and diabetes, which might have led to measurement of cholesterol concentration, were uncommon in the newly diagnosed patients.

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Relevant Article

Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia

D Bhatnagar, J Morgan, S Siddiq, M I Mackness, J P Miller, and P N Durrington
BMJ 2000 321: 1497. [Abstract] [Full Text] [PDF]