Intended for healthcare professionals


Screening for familial hypercholesterolaemia

BMJ 2000; 321 doi: (Published 16 December 2000) Cite this as: BMJ 2000;321:1483

Effective, safe treatments and DNA testing make screening attractive

  1. J J P Kastelein, director (
  1. Lipid Research Group, Academic Medical Center Amsterdam, Department of Vascular Medicine, Room G1-146, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands

    Papers p 1497

    Familial hypercholesterolaemia is a common disorder of lipid metabolism associated with a high risk of early mortality from coronary artery disease.1 It is so common that general practitioners often have one or two families with the disorder in their practices, although they are frequently unaware of this.2 People with familial hypercholesterolaemia often die from atherosclerotic heart disease before the age of 40; this is particularly true for men. These sudden deaths are tragic because they can easily be prevented once the condition has been recognised and treated properly.3 It has been well established that the clinical sequelae of familial hypercholesterolaemia are the consequence of the extremely high concentrations of low density lipoprotein cholesterol that these 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 particularly effective in patients with this condition.4 While it would seem logical to assume that treatment with statins …

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