Importance of early recognition of heterozygous familial hypercholesterolaemia

To outline recent updates in the diagnosis and management of heterozygous familial hypercholesterolaemia.

Recent guidelines have suggested that familial hypercholesterolaemia is vastly underdiagnosed in most countries worldwide. Improvements in next-generation sequencing have led to the detection of novel mutations and the cheaper cost of this technology makes the early identification of asymptomatic individuals a feasible option. With more widespread use of high doses of more potent statins in affected adults, cardiovascular mortality has decreased in adults with hypercholesterolaemia.

Barriers to cascade testing of relatives of index cases remain worldwide despite improvements in gene technology and the marked recent decrease in costs of genetic testing. Recent guidelines recommending screening of young children, for example, 8-10 years with measurement of LDL cholesterol concentrations will increase the diagnosis of familial hypercholesterolaemia among children but long-term safety data of the use of statins in this young age group are not available. To date, the benefit of statin-induced decreases in LDL cholesterol concentration in children is based on effects of treatment on proxy measures of cardiovascular disease and not a reduction in cardiovascular events.