9 mars 2022
Ce document est lié à :
info:eu-repo/semantics/altIdentifier/doi/10.53738/REVMED.2022.18.772.438
Ce document est lié à :
info:eu-repo/semantics/altIdentifier/pmid/35266344
Ce document est lié à :
info:eu-repo/semantics/altIdentifier/pissn/1660-9379
Ce document est lié à :
info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_539A27F7EE4E9
info:eu-repo/semantics/openAccess , CC BY-NC-ND 4.0 , https://creativecommons.org/licenses/by-nc-nd/4.0/
A. Butty et al., « 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] », Serveur académique Lausannois, ID : 10.53738/REVMED.2022.18.772.438
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.