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Phenotypic and genotypic characterization of familial hypercholesterolemia in French adult and pediatric populations

dc.rights.licenseopenen_US
dc.contributor.authorFOURGEAUD, Melanie
dc.contributor.authorLEBRETON, Louis
dc.contributor.authorBELABBAS, Khaldia
dc.contributor.authorDI FILIPPO, Mathilde
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorRIGALLEAU, Vincent
IDREF: 069788146
hal.structure.identifierBiologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases
dc.contributor.authorCOUFFINHAL, Thierry
dc.contributor.authorPUCHEU, Yann
dc.contributor.authorBARAT, Pascal
dc.contributor.authorGED, Cecile
dc.contributor.authorBERARD, Annie M.
dc.date.accessioned2022-05-11T15:08:12Z
dc.date.available2022-05-11T15:08:12Z
dc.date.issued2022-03-17
dc.identifier.issn1933-2874 (Print) 1876-4789 (Linking)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/140042
dc.description.abstractEnBACKGROUND: Familial hypercholesterolemia (FH) is the most common genetic disorder associated with a high risk for premature atherosclerotic cardiovascular disease attributable to increased levels of LDL-cholesterol (LDL-C) from birth. FH is both underdiagnosed and undertreated. OBJECTIVE: We describe the clinical, biological, and genetic characteristics of 147 patients in France with clinical FH (including a group of 26 subjects aged < 20 years); we explore how best to detect patients with monogenic FH. METHODS: We retrospectively reviewed all available data on patients undergoing genetic tests for FH from 2009 to 2019. FH diagnoses were based on the Dutch Lipid Clinics Network (DLCN) scores of adults, and elevated LDL-C levels in subjects < 20 years of age. We evaluated LDLR, APOB, and PCSK9 status. RESULTS: The mutations of adults (in 25.6% of all adults) were associated with DLCN scores indicating "possible FH," "probable FH, and "definitive FH" at rates of 4%, 16%, and 53%, respectively. The areas under the ROC curves of the DLCN score and the maximum LDL-C level did not differ (p = 0.32). We found that the pediatric group evidenced more monogenic etiologies (77%, increasing to 91% when an elevated LDL-C level was combined with a family history of hypercholesterolemia and/or premature coronary artery disease). CONCLUSION: Diagnosis of monogenic FH may be optimized by screening children in terms of their LDL-C levels, associated with reverse-cascade screening of relatives when the children serve as index cases.
dc.language.isoENen_US
dc.subject.enFamilial hypercholesterolemia
dc.subject.enAdult population
dc.subject.enPediatric population
dc.subject.enMonogenic disease
dc.subject.enDLCN score
dc.subject.enLDL cholesterol
dc.title.enPhenotypic and genotypic characterization of familial hypercholesterolemia in French adult and pediatric populations
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.jacl.2022.03.002en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed35379577en_US
bordeaux.journalJournal of clinical lipidologyen_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamLEHA_BPHen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.exportfalse
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&amp;rft_val_fmt=info:ofi/fmt:kev:mtx:journal&amp;rft.jtitle=Journal%20of%20clinical%20lipidology&amp;rft.date=2022-03-17&amp;rft.eissn=1933-2874%20(Print)%201876-4789%20(Linking)&amp;rft.issn=1933-2874%20(Print)%201876-4789%20(Linking)&amp;rft.au=FOURGEAUD,%20Melanie&amp;LEBRETON,%20Louis&amp;BELABBAS,%20Khaldia&amp;DI%20FILIPPO,%20Mathilde&amp;RIGALLEAU,%20Vincent&amp;rft.genre=article


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