RT Conference Proceedings
T1 Laboratory diagnosis of severe hypertriglyceridaemia. Cases from the dyslipidaemia regristy of the spanish atherosclerosis society
A1 Ariza-Corbo, María José
A1 Muñiz-Grijalvo, Ovidio
A1 Arrobas-Velilla, T.
A1 Ortega, E.
A1 Zambón, D.
A1 Domenech, A.
A1 Álvarez-Sala, L.A.
A1 Delgado-Lista, J.
A1 González-Estrada, A.
A1 Rioja Villodres, José
A1 Seidel, V.A.
A1 Fuentes, F.J.
A1 Camacho, Ana
A1 Romero, M.J.
A1 Sánchez-Chaparro, Miguel Ángel
A1 Valdivielso-Felices, Pedro
A1 Ariza-Corbo, María José
K1 Medicina
AB Background and AimsSevere hypertriglyceridaemia (sHTG) increases the risk of cardiovascular disease and acute pancreatitisepisodes. Patients with sHTG fit mainly into two clinical entities: Familial or Multifactorial ChylomicronemiaSyndromes (FCS and MCS, respectively). FCS and MCS exhibit clinical differences but also separate genetic andbiochemical characteristics that can be assessed in the laboratory. The aim of this work has been to implementa laboratory workflow to help diagnose sHTG patients with either FCS or MCS.MethodsPatients with two fasting triglycerides >1000mg/dL determinations were sequenced with a capture probepanel of 24 triglycerides-related genes using massive parallel sequencing (n=200). Two-step sequentialultracentrifugation was performed (n= 159) to diagnose Type I hyperlipoproteinemia (HLP I) and post heparinlipoprotein lipase activity was measured to discard or confirm its deficiency (n=60).ResultsMost patients had MCS as they: (i) did not exhibit HLPI and/or (ii) their genetic profile was not compatible withFCS and (iii) were not deficient in LPL activity. FCS cases were identified as they had: (i) HLPI, and/or (ii) biallelicpathogenic variants in LPL (n=5), GPIHBP1 (n=3), or LMF1 (n=2) genes and/or (iii) LPL activity deficiency. Weidentified 4 FCS patients with HLPI, biallelic pathogenic variants in APOA5 but a rescued LPL activity. Anadditional study of Apo-AV functionality was designed to confirm the FCS diagnosis in these cases.ConclusionsLaboratory studies, in patients with severe hypertriglyceridaemia, provide with information of clinical utility todistinguish between Familial and Multifactorial Chylomicronemia Syndromes.
YR 2022
FD 2022
LK https://hdl.handle.net/10630/24239
UL https://hdl.handle.net/10630/24239
LA eng
NO Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech.
DS RIUMA. Repositorio Institucional de la Universidad de Málaga
RD 19 ene 2026