Screening for familial hypercholesterolaemia

doi:10.1136/bmj.321.7275.1483

BMJ 2000;321:1483-1484 ( 16 December )

Editorials

Screening for familial hypercholesterolaemia

Effective, safe treatments and DNA testing make screening attractive

Papers p 1497

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

Familial hypercholesterolaemia is a common disorder of lipid metabolism associated with a high risk of early mortality fromcoronary artery disease.¹ It is so common that general practitionersoften have one or two families with the disorder in their practices,although they are frequently unaware of this.² People withfamilial hypercholesterolaemia often die from atheroscleroticheart disease before the age of 40; this is particularly truefor men. These sudden deaths are tragic because they can easilybe prevented once the condition has been recognised and treatedproperly.³ It has been well established that the clinical sequelaeof familial hypercholesterolaemia are the consequence of the extremelyhigh concentrations of low density lipoprotein cholesterol thatthese patients have been exposed to since early childhood.¹

The most effective and most widely prescribed class of cholesterol lowering drugs, the statins, was shown to be particularlyeffective in patients with this condition.⁴ While it . . . [Full text of this article]

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Boddington, P., Parker, M. (2008). Preimplantation genetic diagnosis for familial hypercholesterolaemia: a commentary on the recent HFEA decision. Clin Ethics 3: 145-148 [Abstract] [Full text]
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Rapid Responses:

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Psychological consequences of DNA testing are not yet known: Victoria Senior, et al.
bmj.com, 22 Dec 2000 [Full text]
Neuropathy from statins: Elias Ragi
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