Dépistage génétique en cascade de l’hypercholestérolémie familiale - Une nouvelle opportunité pour la prévention cardiovasculaire [Cascade genetic testing of familial hypercholesterolemia A new opportunity for prevention]

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State: Public
Version: Final published version
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Serval ID
serval:BIB_539A27F7EE4E
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Dépistage génétique en cascade de l’hypercholestérolémie familiale - Une nouvelle opportunité pour la prévention cardiovasculaire [Cascade genetic testing of familial hypercholesterolemia A new opportunity for prevention]
Journal
Revue medicale suisse
Author(s)
Butty A., Von Känel T., Gallino A., Beer J.H., Nanchen D.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Publication state
Published
Issued date
09/03/2022
Peer-reviewed
Oui
Volume
18
Number
772
Pages
438-443
Language
french
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
Familial hypercholesterolemia (FH) is a genetic disorder associated with an increased risk of early-onset cardiovascular events. Because lifestyle interventions and lipid-lowering drugs can strongly reduce cardiovascular risk, the early diagnosis of FH is important. Indeed, given the autosomal dominant transmission of the pathogenic variant, a genetic cascade screening program of first-degree relatives from an index case could identify patients at high cardiovascular risk. In Switzerland, genetic testing for FH is rarely used, because it is not reimbursed by health insurance companies. To test the usefulness of cascade genetic testing for FH, the CATCH study is currently ongoing in all linguistic part of Switzerland.
Keywords
Early Diagnosis, Genetic Testing, Humans, Hyperlipoproteinemia Type II/diagnosis, Hyperlipoproteinemia Type II/genetics, Life Style, Switzerland/epidemiology
Pubmed
Create date
18/03/2022 10:37
Last modification date
09/04/2022 6:33
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