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 acce-lerates atherosclerotic vascular disease.
Untreated FH increases the risk of pre-mature 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 corne-ae 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 dia-gnostic 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 as-sociates physicians specializing in patients with severe lipid metabolism disorders including FH.
Treatment is based on sta-tins, often in combination with ezetimibe. A great benefit in the treatment of these patients was the discovery of PCSK9 inhibi-tors, 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 mani-festations of FH, is essential for the early detection of FH patients, who can then be internally examined and followed-up. (C) 2018, Czech Medical Association J.E. Purkyne.
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