title: The diagnosis and management of familial hypercholesterolaemia.
abstract: Familial hypercholesterolaemia is a clinical entity comprising high concentrations of low density lipoproteins, tendinous deposition of cholesterol in a large proportion of affected subjects, and a propensity for the development of atherosclerosis and its complications in the coronary arteries. The aim of this review is to integrate publications with clinical experience into a concise profile of the disorder and its management. In less than a century this disease has been recognised, its lipoprotein derangement identified and numerous causal mutations have been detected. Although the phenotype is most commonly due to the occurrence of mutations in the low density lipoprotein receptor, defects in the apolipoprotein B100 may result in a similar phenotype. The same phenotype has also been linked to a gene and its product, PCSK9 and NARC1, that may be involved in the regulation of cholesterol in the cell. In the past few decades statins, by inhibiting cholesterol synthesis at the rate-limiting enzyme (hydroxymethylglutaryl coenzyme A reductase) have been developed and proven safe and effective in reducing the low density lipoprotein cholesterol, promoting regression and reducing mortality and morbidity. Additionally, advances in imaging techniques are allowing non-invasive insights into the impact of the disease on atherosclerosis. For these reasons there should be a high index of suspicion for this treatable condition in which genetic therapy and further modulation of atherosclerosis can be expected in the future.
authors.affiliation: Lipidology Division of Internal Medicine & MRC Cape Heart Group, Groote Schuur Hospital and University of Cape Town Health Science Faculty, Cape Town, South Africa.
authors.forename: A D
authors.initials: AD
authors.lastname: Marais
authors.forename: J C
authors.initials: JC
authors.lastname: Firth
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*