May 7, 2020

FAMILIAL HYPERCHOLESTEROLAEMIA - A DIAGNOSIS THAT EVERY PLASTIC SURGEON CAN EXPERIENCE

Acta Chirurgiae Plasticae
M ŠatnýM Vráblík

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...Continue Reading

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Mentioned in this Paper

Hydroxymethylglutaryl-CoA Reductase Inhibitors
Xanthoma
Plastic Surgeon
Asymptomatic
Premature Birth
Awareness
PCSK9
Finding
Myocardial Infarction
Dyslipidemias

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