Genetics in familial hypercholesterolaemia – from genetic research to new guidelines

  • Edyta Kinga Prokop I Clinic of Cardiology, Poznan University of Medical Sciences
  • Paweł Piotr Jagodziński Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences
  • Stefan Grajek I Clinic of Cardiology, Poznan University of Medical Sciences https://orcid.org/0000-0001-8047-2881
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, Poznan University of Medical Sciences
Younger assistent at I Clinic of Cardiology
Paweł Piotr Jagodziński, Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences
Head of Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poland
Stefan Grajek, I Clinic of Cardiology, Poznan University of Medical Sciences
Head of I Clinic of Cardiology, Poznan University of Medical Sciences, Poland

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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, 88(3), 192-194. https://doi.org/10.20883/jms.245
Section
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