Genetics in familial hypercholesterolaemia – from genetic research to new guidelines




familial hypercholesterolaemia, PCSK9 inhibitors, evolocumab, alirocumab, dyslipidaemias


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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Author Biography

Edyta Kinga Prokop, I Clinic of Cardiology, Poznan University of Medical Sciences, Poland

Younger assistent at I Clinic of Cardiology


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How to Cite

Prokop EK, Jagodziński PP, Grajek S. Genetics in familial hypercholesterolaemia – from genetic research to new guidelines. JMS [Internet]. 2019 Apr. 3 [cited 2024 Jun. 21];88(3):192-4. Available from:



Thousand words about...
Received 2017-07-16
Accepted 2019-04-01
Published 2019-04-03