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Familial and Multifactorial Chylomicronemia Syndrome: Insights from Clinically Diagnosed Cases in Portugal

2025-05-04Documento de conferência Acesso restrito
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dc.contributor.authorAlves, Ana Catarina
dc.contributor.authorFerreira, Maria
dc.contributor.authorFerreira, Ana Cristina
dc.contributor.authorPadeira, Gonçalo
dc.contributor.authorGaspar, Ana
dc.contributor.authorDuarte, João Sequeira
dc.contributor.authorRato, Quitéria
dc.contributor.authorGonçalves, Filipa Sousa
dc.contributor.authorAguiar, Patrício
dc.contributor.authorCruz, Diogo
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2026-03-04T16:22:36Z
dc.date.available2026-03-04T16:22:36Z
dc.date.issued2025-05-04
dc.description(Maria - Palavras chave em ingles)
dc.description.abstractFamilial Chylomicronemia Syndrome (FCS) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in one of five canonical genes, LPL, APOC2, GPIHBP1, APOA5, and LMF1. These variants result in impaired hydrolysis of triglyceride-rich lipoproteins, leading to clinical features such as xanthomas, abdominal pain, hepatomegaly, hepatosplenomegaly, lipemia retinalis, and recurrent pancreatitis. In contrast, Multifactorial Chylomicronemia Syndrome (MCS) often involves monoallelic variants in these genes and/or a high polygenic risk score, contributing to the severe hypertriglyceridemia phenotype. Clinically, FCS and MCS have a similar presentation, requiring genetic analysis for differentiation. This study aimed to clinically and molecularly characterize 42 individuals with severe hypertriglyceridemia in Portugal. Biochemical lipid profile and molecular analysis of the five canonical genes were performed. Moulin's score was applied to 14 cases; for the remaining cases, all data could not be obtained. The average pre-treatment triglyceride level was 2570 mg/dL. Fourteen individuals had pancreatitis, four had hepatomegaly, and three presented with both conditions. Eight cases have biallelic variants: five in LPL (three with identical variants, two with different variants), one in APOC2, one frameshift variant in LMF1 and one total exon 4 deletion in GPIHBP1 (all with identical variants). For these cases, the Moulin score obtained was FCS very likely. Twenty cases have heterozygous variants in LPL, APOA5, LMF1, and GPIHBP1 and were classified as MCS. For one of these cases, the Moulin score was FCS very likely. Ten patients have a negative genetic study, 5 of which had a score of unlikely FCS. Four are still under study. Early identification of FCS is critical to prevent or mitigate its severe complications. A confirmed molecular diagnosis enables accurate differentiation between FCS and MCS, leading to improved clinical management and prognosis. This study underscores the importance of integrating genetic analysis into the diagnostic workup of severe hypertriglyceridemia.eng
dc.description.sponsorshipProjects grants: FCT (PTDC/SAU-GMG/101899/2008) and Akcea Therapeutics.
dc.identifier.urihttp://hdl.handle.net/10400.18/11156
dc.language.isoeng
dc.peerreviewedn/a
dc.relationPTDC/SAU-GMG/101899/2008
dc.rights.uriN/A
dc.subjectChylomicronemia Syndrome
dc.subjectGenetic Disorder
dc.subjectAutosomal Recessive Disorder
dc.subjectDoenças Cardio e Cérebro-vasculares
dc.subjectPortugal
dc.titleFamilial and Multifactorial Chylomicronemia Syndrome: Insights from Clinically Diagnosed Cases in Portugaleng
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferenceDate2025-05
oaire.citation.conferencePlaceGlasgow, Scotland (UK)
oaire.citation.title93rd European Atherosclerosis Society (EAS) Congress, 4-7 may 2025
oaire.versionhttp://purl.org/coar/version/c_b1a7d7d4d402bcce

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