Screening for familial hypercholesterolaemia

Effective, safe treatments and DNA testing make screening attractive

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 …