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HERO ID
7276854
Reference Type
Journal Article
Subtype
Review
Title
Genetics of Familial Hypercholesterolemia: New Insights
Author(s)
Vrablik, M; Tichý, L; Freiberger, T; Blaha, V; Satny, M; Hubacek, JA
Year
2020
Is Peer Reviewed?
1
Journal
Frontiers in Genetics
EISSN:
1664-8021
Volume
11
Page Numbers
574474
Language
English
PMID
33133164
DOI
10.3389/fgene.2020.574474
Web of Science Id
WOS:000579816200001
Abstract
Familial hypercholesterolemia (FH) is one of the most common monogenic diseases, leading to an increased risk of premature atherosclerosis and its cardiovascular complications due to its effect on plasma cholesterol levels. Variants of three genes (LDL-R, APOB and PCSK9) are the major causes of FH, but in some probands, the FH phenotype is associated with variants of other genes. Alternatively, the typical clinical picture of FH can result from the accumulation of common cholesterol-increasing alleles (polygenic FH). Although the Czech Republic is one of the most successful countries with respect to FH detection, approximately 80% of FH patients remain undiagnosed. The opportunities for international collaboration and experience sharing within international programs (e.g., EAS FHSC, ScreenPro FH, etc.) will improve the detection of FH patients in the future and enable even more accessible and accurate genetic diagnostics.
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