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Cascade Screening in Familial Hypercholesterolemia: Adult cascade screening versus CHILD reverse cascade screening

2023-10-28Conference object Restricted access
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dc.contributor.authorMiranda, Beatriz
dc.contributor.authorMedeiros, Ana Margarida
dc.contributor.authorAlves, Ana Catarina
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2024-02-15T15:39:29Z
dc.date.available2024-02-15T15:39:29Z
dc.date.issued2023-10-28
dc.description.abstractFamilial hypercholesterolemia (FH) is an inherited lipid disorder that increases the risk of developing 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, in this work, we aimed to assess the outcome of both creening strategies (adult cascade screening and child reverse cascade screening) 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 notably creates the opportunity for more relatives to be tested at a younger age. However, it remains 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/10400.18/9119
dc.language.isoengpt_PT
dc.peerreviewednopt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.subjectFamilial Hypercholesterolaemiapt_PT
dc.subjectCardiovascular Diseaspt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleCascade Screening in Familial Hypercholesterolemia: Adult cascade screening versus CHILD reverse cascade screeningpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlacePeniche, Portugalpt_PT
oaire.citation.titleXXXI Congresso Português de Aterosclerose (CPA), 27-28 outubro 2023pt_PT
rcaap.rightsrestrictedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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