Genetic testing of familial hypercholesterolemia in clinical practice: statement of Czech Society for Atherosclerosis

Česká verzia

Authors: Michal Vrablík ¹; Vladimír Bláha ²; Renata Cífková ³; Tomáš Freiberger ⁴; David Karásek ⁵; Pavel Kraml ⁶; Jan Piťha ⁷; Hana Rosolová ⁸; Vladimír Soška ⁹; Tomáš Štulc ¹; Lukáš Tichý ¹⁰; Zuzana Urbanová Za Výbor Čsat ¹¹; Jana Mašková ¹²
Authors place of work: III. interní klinika - endokrinologie a metabolismu 1. LF UK a VFN v Praze ¹; III. interní gerontometabolická klinika LF UK a FN Hradec Králové ²; Centrum kardiovaskulární prevence 1. LF UK a Thomayerova nemocnice, Praha ³; Centrum kardiovaskulární a transplantační chirurgie, Brno ⁴; III. interní klinika – nefrologická, revmatologická a endokrinologická LF UP a FN Olomouc ⁵; II. interní klinika 3. LF a FN Královské Vinohrady, Praha ⁶; Interní klinika 2. LF UK a FN Motol a Laboratoř pro výzkum aterosklerózy IKEM, Praha ⁷; II. interní klinika LF UK a FN Plzeň ⁸; Oddělení klinické biochemie, II. interní klinika LF MU a FN u sv. Anny v Brně ⁹; Interní hematoonkologická klinika, Centrum molekulární biologie a genové terapie FN Brno ¹⁰; Klinika dětského a dorostového lékařství 1. LF UK a VFN v Praze ¹¹; NEOX Clinical Research, Praha ¹²
Published in the journal: AtheroRev 2020; 5(3): 147-157
Category: Guidelines

Summary

Although awareness about familial hypercholesterolemia (FH) is increasing, this widespread and potentially fatal, but treatable disease, remains underdiagnosed. Although FH is an inherited condition, genetic testing for this disease is still rare. The Familial Hypercholesterolemia Foundation convened an international panel of experts to evaluate the usefulness of molecular genetic testing for FH. The findings that form the basis for justification of the examination are as follows: (1) detection of a causal mutation facilitates the definitive diagnosis (2) presence of a pathogenic mutation involves a higher cardiovascular risk and potentially requires more aggressive lipid lowering (3) for genetically demonstrated FH, there is an increased likelihood of early initiation of and adherence to treatment; and (4) the knowledge of the causal mutation essentially facilitates the cascade examination of relatives at risk. The consensus of the panel of experts recommends that genetic testing for FH becomes a standard in the care of patients with verified or likely FH and their relatives at risk. The genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (apoB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) should be tested. Other genes can be included in the examination according to the patient’s phenotype. The benefits will be an increase in the number of diagnosed patients, a more effective cascade examination, initiation of treatment at an earlier age and more accurate risk identification.

Keywords:

cardiovascular risk – APOB gen – Familial Hypercholesterolemia Foundation – genetic testing – LDLR gen – PCSK9 gen – familiární hypercholesterolemie

Zdroje

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