Fatal Familial Cholesterol Disease Overlooked

Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary heart disease (CHD), namely myocardial infarction and angina pectoris, due to lifelong elevated plasma low-density lipoprotein (LDL) cholesterol levels.

Owing to severe underdiagnoses and under treatment of FH, there is an urgent worldwide need for diagnostic screening together with early and aggressive treatment of this extremely high-risk condition, which if once diagnosed, can readily be treated with cholesterol-lowering medication to attenuate development of atherosclerosis and to prevent CHD.


Clinical biochemists at the University of Copenhagen (Denmark) with their international collaborators, found that for a theoretical estimated prevalence of 1 in 500 for heterozygous FH, less than 1% are diagnosed in most countries. Recently, direct screening in a Northern European general population diagnosed approximately 1 in 200 with heterozygous FH. All reported studies document failure to achieve recommended LDL cholesterol targets in a large proportion of individuals with FH, and up to 13-fold increased risk of CHD.

Based on prevalence between 1 in 500 and 1 in 200, between 14 and 34 million individuals worldwide have FH. The investigators recommend that children, adults, and families should be screened for FH if a person or family member presents with FH, a plasma cholesterol level in an adult of equal to or greater than 8 mmol/L (≥ 310 mg/dL) or a child with equal to or greater than 6 mmol/L (≥ 230 mg/dL), premature CHD, tendon xanthomas, or sudden premature cardiac death. The FH condition can be confirmed with a gene test.

In FH, low-density lipoprotein cholesterol targets are less than 3.5 mmol/L (<135 mg/dL) for children, and less than 2.5 mmol/L (<100 mg/dL) for adults, and less than 1.8 mmol/L (<70 mg/dL) for adults with known CHD or diabetes. M. John Chapman, PhD, DSc, a professor at the Pitié-Salpetriere University Hospital (Paris, France) and a senior author of the study said, “It is surprising and sad that even rich countries with highly developed health systems fail to help these people. It is not a question of economic resources, as the disease is easy to diagnose and inexpensive to treat.” The study was published online on August 15, 2013, in the European Heart Journal.

Related Links:
University of Copenhagen
Pitié-Salpetriere University Hospital