Genetics in familial hypercholesterolaemia – from genetic research to new guidelines | Zendy

Edyta Prokop | Zendy; Paweł P. Jagodzińśki | Zendy; Stefan Grajek | Zendy

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Genetics in familial hypercholesterolaemia – from genetic research to new guidelines

Author(s) -

Edyta Prokop,

Paweł P. Jagodzińśki,

Stefan Grajek

Publication year - 2019

Publication title -

journal of medical science

Language(s) - English

Resource type - Journals

eISSN - 2353-9801

pISSN - 2353-9798

DOI - 10.20883/jms.245

Subject(s) - pcsk9 , proprotein convertase , kexin , apolipoprotein b , ldl receptor , medicine , familial hypercholesterolemia , disease , genetics , genetic disorder , bioinformatics , biology , cholesterol , lipoprotein

Familial Hypercholesterolaemia (FH) is genetic disorder touching up to 1 to 250 people, increasing the risk of atherosclerotic cardiovascular disease risk and early death by 3–13 times. The majority of mutations are autosomal dominant among 3 genes related to cholesterole metabolism: LDL‑receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9). It comprises 60% of reported cases, which still is not at satisfactory level. This article summarizes new research in the field of FH and points out new therapeutic methods — PCSK9 inhibitors as advised in new European Society of Cardiology guidelines od dyslipidaemias.

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