2026-05-28T20:33:24Zhttps://riuma.uma.es/rest/oai/request

oai:riuma.uma.es:10630/242392026-02-03T11:55:53Zcom_10630_2254col_10630_37959

Laboratory diagnosis of severe hypertriglyceridaemia. Cases from the dyslipidaemia regristy of the spanish atherosclerosis society Ariza-Corbo, María José Muñiz-Grijalvo, Ovidio Arrobas-Velilla, T. Ortega, E. Zambón, D. Domenech, A. Álvarez-Sala, L.A. Delgado-Lista, J. González-Estrada, A. Rioja Villodres, José Seidel, V.A. Fuentes, F.J. Camacho, Ana Romero, M.J. Sánchez-Chaparro, Miguel Ángel Valdivielso-Felices, Pedro Ariza-Corbo, María José Medicina Background and Aims Severe hypertriglyceridaemia (sHTG) increases the risk of cardiovascular disease and acute pancreatitis episodes. Patients with sHTG fit mainly into two clinical entities: Familial or Multifactorial Chylomicronemia Syndromes (FCS and MCS, respectively). FCS and MCS exhibit clinical differences but also separate genetic and biochemical characteristics that can be assessed in the laboratory. The aim of this work has been to implement a laboratory workflow to help diagnose sHTG patients with either FCS or MCS. Methods Patients with two fasting triglycerides >1000mg/dL determinations were sequenced with a capture probe panel of 24 triglycerides-related genes using massive parallel sequencing (n=200). Two-step sequential ultracentrifugation was performed (n= 159) to diagnose Type I hyperlipoproteinemia (HLP I) and post heparin lipoprotein lipase activity was measured to discard or confirm its deficiency (n=60). Results Most patients had MCS as they: (i) did not exhibit HLPI and/or (ii) their genetic profile was not compatible with FCS and (iii) were not deficient in LPL activity. FCS cases were identified as they had: (i) HLPI, and/or (ii) biallelic pathogenic variants in LPL (n=5), GPIHBP1 (n=3), or LMF1 (n=2) genes and/or (iii) LPL activity deficiency. We identified 4 FCS patients with HLPI, biallelic pathogenic variants in APOA5 but a rescued LPL activity. An additional study of Apo-AV functionality was designed to confirm the FCS diagnosis in these cases. Conclusions Laboratory studies, in patients with severe hypertriglyceridaemia, provide with information of clinical utility to distinguish between Familial and Multifactorial Chylomicronemia Syndromes. 2022-05-31T06:57:19Z 2022-05-31T06:57:19Z 2022 2022 conference output https://hdl.handle.net/10630/24239 eng Eueopean Congress of the Arteriosclerosis Society 2022 Milan Del 22 al 25 de mayo de 2022 open access