BMJ 2001;322:1061 ( 28 April )

Letters

Screening for familial hypercholesterolaemia

    Funding is difficult to obtain but screening can be international
    Early identification and treatment of patients is important

Funding is difficult to obtain but screening can be international

The first 150 words of the full text of this article appear below.

EDITOR---Bhatnagar et al highlighted the cost effective approach of screening family members of probands with the dominant condition of familial hypercholesterolaemia to identify affected relatives at high risk for atheromatous vascular disease.1 We would like to raise three additional points.

Firstly, patients with clinical features of familial hypercholesterolaemia are often not given an accurate diagnosis unless they come to the attention of a physician interested in lipid disorders. Examination of the Achilles tendons for xanthoma is often overlooked during the routine physical examination, even in patients with very high plasma concentrations of cholesterol and obvious xanthelasmata or prominent premature corneal arcus, so that the precise clinical diagnosis of familial hypercholesterolaemia, with the implications for family screening, may not be made.

Even cardiologists who have a direct interest in the consequences of the disease may not diagnose it because of a preoccupation with the acute events, intervention procedures, and . . . [Full text of this article]
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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]

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