FAMILIAL HYPERCHOLESTEROLAEMIA - A DIAGNOSIS THAT EVERY PLASTIC SURGEON CAN EXPERIENCE

PMID: 32370518

Abstract

Familial hypercholesterolaemia (FH) is the most common autosomal dominant inheritable disease caused by a defective catabolism of LDL particles. Their subsequent accumulation in circulation accelerates atherosclerotic vascular disease. Untreated FH increases the risk of premature manifestation of atherosclerosis (myocardial infarction - MI- or stroke); it is known that homozygous patients, if not adequately treated, are usually affected by atherothrombotic complications of the underlying disease before 20 years of age and often do not live longer than 30 years. Patients with FH are asymptomatic for a long period of time; their elevated blood lipid levels are often a random laboratory finding. The cardiovascular complications (MI or stroke) may be the primary manifestation of this disease. Clinical signs (xanthomas, xanthelasma or arcus corneae lipoides) occur rarely in these patients but are pathognomic, so at least basal awareness of these findings is necessary. Upon detection of such findings, a diagnostic procedure of FH including blood lipid measuring, careful personal and family history of cardiovascular disease (CVD) and subsequent referral to GPs or to MEDPED specialist is crucial. MEDPED (Make Early Diagnosis to Prevent Early Deaths in MEDical PEDigrees) project associates physicians specializing in patients with severe lipid metabolism disorders including FH. Treatment is based on statins, often in combination with ezetimibe. A great benefit in the treatment of these patients was the discovery of PCSK9 inhibitors, which are very effective and represent a therapeutic option especially for patients with very severe dyslipidaemia or with intolerance of statin therapy. The FH awareness of a plastic surgeon as a first-contact physician, who may be confronted with typical skin or eye manifestations of FH, is essential for the early detection of FH patients, who can then be internally examined and followed-up.

Keywords: Familial hypercholesterolaemia; Statins; alirocumab; arcus corneae; evolocumab; ezetimibe; lipid-lowering therapy; xanthelasma; xanthoma.