Familial hypercholesterolaemia: a genetic condition with associated cardiovascular risk

Abstract

Familial hypercholesterolaemia is a common genetic condition that affects the liver's ability to clear low-density lipoprotein cholesterol from the bloodstream. It affects around one in 250 individuals and is characterised by elevated lipid levels from birth. The causal relationship between raised lipids and cardiovascular disease is well established and the impact of this is evident in familial hypercholesterolaemia. These individuals find themselves at increased risk of premature cardiovascular events as a result of the cumulative lifetime burden of excess cholesterol in the bloodstream. Most individuals with familial hypercholesterolaemia remain undiagnosed and therefore untreated. Early detection and treatment of familial hypercholesterolaemia provides an opportunity to initiate cardiovascular risk prevention, which can reduce the individual's level of risk to that of the general population. Increasing nurses' genetic knowledge and raising awareness of conditions such as familial hypercholesterolaemia can help to improve current rates of detection and provide nurses with the necessary skills to recognise and support patients and their families.