Familial hypercholesterolemia: clinical reports, molecular genetics and differential diagnosis

Authors: Michal Vrablík 1;  Lucie Schwarzová 1;  Tomáš Freiberger 1;  Lukáš Tichý 2;  Richard Češka 1
Authors‘ workplace: Centrum preventivní kardiologie III. interní kliniky 1. LF UK a VFN, Praha 1;  Genetická laboratoř, Centrum kardiovaskulární a transplantační chirurgie, Brno 2
Published in: AtheroRev 2016; 1(1): 19-27
Category: Reviews


Recent studies have revealed the prevalence of familial hypercholesterolemia (FH) is approximately twice higher than previously estimated and, thus, the disease affects one in 250 persons from the general population. Therefore FH remains the most frequent inherited metabolic disorder. Due to the genetic defect LDL-cholesterol accumulates both in the plasma and tissues leading to premature and accelerated atherosclerosis. Untreated patients with FH might suffer myocardial infarction in the third or fourth decade, one third of these events being fatal. The disease is under­diagnosed and undertreated worldwide. The most effective way to identify FH patients is so called cascade screening in affected families. Early diagnosis and treatment significantly contribute to lowering of CVD risk. The treatment is based on lifestyle changes complemented with a maximal dose of statin. In case target LDL-cholesterol values are not reached a statin-ezetimibe combination is recommended. In the nearest future we will be able to use novel therapies (particularly PCSK9 inhibitors). These compounds together with MTP inhibitor lomitapide (indicated for homozygous and severe heterozygous FH) will bring up to 80 % of patients to their LDL-cholesterol targets.

Key words:
familial hypercholesterolemia – differential diagnosis – genetics – cardiovascular risk – cascade screening


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Angiology Diabetology Internal medicine Cardiology General practitioner for adults
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