Genetics in familial hypercholesterolaemia – from genetic research to new guidelines

  • Edyta Kinga Prokop I Clinic of Cardiology Poznań University of Medical Sciences
  • Paweł Piotr Jagodziński Department of Biochemistry and Molecular Biology, Poznań University of Medical Sciences
  • Stefan Grajek I Clinic of Cardiology Poznań University of Medical Sciences
Keywords: familial hypercholesterolaemia, PCSK9 inhibitors, evolocumab, alirocumab, dyslipidaemias

Abstract

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.

Author Biographies

Edyta Kinga Prokop, I Clinic of Cardiology Poznań University of Medical Sciences
Younger assistent at I Clinic of Cardiology
Paweł Piotr Jagodziński, Department of Biochemistry and Molecular Biology, Poznań University of Medical Sciences
Head of Department of Biochemistry and Molecular Biology, Poznan=ń University of Medical Sciences
Stefan Grajek, I Clinic of Cardiology Poznań University of Medical Sciences
Head of I Clinic of Cardiology, Poznań University of Medical Sciences

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Published
2019-04-03
How to Cite
Prokop, E., Jagodziński, P., & Grajek, S. (2019). Genetics in familial hypercholesterolaemia – from genetic research to new guidelines. Journal of Medical Science. https://doi.org/10.20883/jms.245
Section
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