2026-06-03T22:15:11Zhttps://riuma.uma.es/rest/oai/request

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

00925njm 22002777a 4500 dc Ariza-Corbo, María José author Muñiz-Grijalvo, Ovidio author Arrobas-Velilla, T. author Ortega, E. author Zambón, D. author Domenech, A. author Álvarez-Sala, L.A. author Delgado-Lista, J. author González-Estrada, A. author Rioja Villodres, José author Seidel, V.A. author Fuentes, F.J. author Camacho, Ana author Romero, M.J. author Sánchez-Chaparro, Miguel Ángel author Valdivielso-Felices, Pedro author Ariza-Corbo, María José author 2022 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. https://hdl.handle.net/10630/24239 Medicina Laboratory diagnosis of severe hypertriglyceridaemia. Cases from the dyslipidaemia regristy of the spanish atherosclerosis society