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Adult cascade screening versus child reverse cascade screening in Familial Hypercholesterolemia

2023-05-28Conference object Restricted access
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dc.contributor.authorMiranda, Beatriz Raposo
dc.contributor.authorMedeiros, Ana Margarida
dc.contributor.authorAlves, Ana Catarina
dc.contributor.authorBourbon, Mafalda
dc.contributor.authoron behalf of the Portuguese FH Study investigators
dc.date.accessioned2024-01-18T11:57:01Z
dc.date.available2024-01-18T11:57:01Z
dc.date.issued2023-05-28
dc.description.abstractFamilial hypercholesterolemia (FH) is a common inherited lipid disorder that predisposes to cardiovascular disease (CVD). Despite most cascade screening programs are initiated by adult index cases, reverse cascade screening pediatric index cases is starting to be described. Therefore, we aimed to assess the outcome of adult cascade screening and child reverse cascade screening strategies in families from the Portuguese FH Study (PFHS). The PFHS database was consulted, and 423 index cases genetically identified with FH (224 adults and 199 children) and their 997 relatives referred to the PFHS were analysed. From 224 adults with FH, 485 relatives were enrolled for cascade screening and 290 were identified with FH. From 199 paediatric cases with FH, 512 relatives were screened and 286 were identified with FH. Child reverse cascade screening presented a slightly higher diagnostic rate than adult cascade screening, 1.44 vs 1.29 new cases with FH per index case, and the age of the relatives identified was younger, 29 vs 37 years. For 94% of index children, relatives were referred (2.56 relatives per index), in contrast with the adult cohort whereas only 70% were referred with family-members (2.17 relatives per index). Overall, both screening approaches constitute valuable tools to identify new cases with FH, but the child reverse cascade screening creates the opportunity for more relatives to be tested at a younger age. It is crucial to improve relatives' recruitment rate since early identification allows a correct FH diagnosis and treatment to prevent CVD.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/8922
dc.language.isoengpt_PT
dc.peerreviewednopt_PT
dc.subjectFamilial Hypercholesterolaemiapt_PT
dc.subjectCardiovascular Diseasept_PT
dc.subjectPortuguese FH Studypt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleAdult cascade screening versus child reverse cascade screening in Familial Hypercholesterolemiapt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceMannheim, Germanypt_PT
oaire.citation.title91st European Atherosclerosis Society (EAS) Congress, 21-24 May 2023pt_PT
rcaap.rightsrestrictedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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