作者
María José Ariza, José Rioja, Daiana Ibarretxe, Ana Camacho, José Luis Díaz-Díaz, Alipio Mangas, Julio A Carbayo-Herencia, Pablo Ruiz-Ocaña, Itziar Lamíquiz-Moneo, Daniel Mosquera, Pedro Sáenz, Luis Masana, Ovidio Muñiz-Grijalvo, Sofía Pérez-Calahorra, Pedro Valdivielso, M Suárez Tembra, Gonzalo Pías Iglesias, JA Carbayo Herencia, C Guerrero Buitrago, L Vila, C Morales Coca, E Llargués Rocabruna, V Perea Castillo, J Pedro-Botet, E Climent, M Mauri Pont, X Pinto, E Ortega Martínez de la Victoria, J Amor, D Zambón Rados, F Blanco Vaca, JM Ramiro Lozano, FJ Fuentes Jiménez, I Soler, C Ferrer, A Zamora Cervantes, A Vila Belmonte, FJ Novoa Mogollón, RM Sanchez-Hernández, AB Expósito Montesdeoca, MJ Romero Jiménez, MP González García, M Bueno Díez, A Brea Hernando, C Lahoz, J Mostaza Prieto, J Millán Núñez-Cortés, L Reinares García, A Blanco Echevarría, María José Ariza Corbo, J Rioja Villodres, MA Sánchez-Chaparro, S Jansen Chaparro, P Sáenz Aranzubía, E Martorell Mateu, F Almagro Múgica, O Muñiz Grijalvo, L Masana Martín, N Plana Gil, D Ibarretxe Gerediaga, C Rodríguez Borjabad, S Zabala López, A Hernández Mijares, JF Ascaso Gimilio, L Pérez García, F Civeira Murillo, S Pérez-Calahorra, I Lamiquiz-Moneo, R Mateo Gallego, V Marco Benedí, J Ferrando Vela
发表日期
2018/11/1
期刊
Journal of Clinical Lipidology
卷号
12
期号
6
页码范围
1482-1492. e3
出版商
Elsevier
简介
Background
Familial chylomicronemia syndrome (FCS) is an extremely rare lipoprotein disorder caused by mutations in at least 5 genes of the lipoprotein lipase (LPL) complex.
Objective
This work shows the molecular analysis of patients diagnosed with FCS, who attended the Spanish Arteriosclerosis Society lipid units and were included in the National Dyslipidemia Registry.
Methods
Among the 238 patients registered with severe hypertriglyceridemia (fasting triglycerides >1000 mg/dL), 26 were diagnosed with FCS as they had confirmed postheparin plasma LPL activity deficiency and/or homozygosity for loss-of-function mutations in LPL, GPIHBP1, APOC2, LMF1, or Apolipoprotein A5 (APOA5).
Results
Among the 26 FCS cases, 23 had mutations in the homozygous state: 19 in LPL and 4 in the GPIHBP1 gene. The molecular analysis revealed 3 novel mutations: 2 in LPL, in 2 unrelated patients (c.312delA; p …
学术搜索中的文章
MJ Ariza, J Rioja, D Ibarretxe, A Camacho… - Journal of Clinical Lipidology, 2018