Genetics in familial hypercholesterolaemia – from genetic research to new guidelines
DOI:
https://doi.org/10.20883/jms.245Keywords:
familial hypercholesterolaemia, PCSK9 inhibitors, evolocumab, alirocumab, dyslipidaemiasAbstract
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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References
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Copyright (c) 2019 Edyta Kinga Prokop, Paweł Piotr Jagodziński, Stefan Grajek
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
Accepted 2019-04-01
Published 2019-04-03