Familial hypercholesterolaemia and the Medical Examinations Act

Familial hypercholesterolaemia (FH) is a hereditary disorder of the fat metabolism which predisposes to premature atherosclerosis, due to an increase in cholesterol levels. FH presents itself in a homozygous or a heterozygous variant. The homozygous variant is a vary serious disease, that occurs in the Netherlands to approximately one in a million individuals. It is estimated that some 40,000 people in the Netherlands have the heterozygous variant of FH. The risk of premature death due to cardiovascular disease among carriers of a gene mutation for FH is four times higher than among the population at large. Life expectancy is shortened by about ten years if FH goes untreated. Most of FH carriers are not aware of their disorder. Because nowadays effective treatment is available, pleas for early screening are being made.