Martine Paquette, Robert A Hegele, Guillaume Paré, Alexis Baass
Journal: Journal of clinical lipidology 2019;12(2):506-510
PMID: 29452893
Familial chylomicronemia syndrome is characterized by severe elevation in serum triglycerides and an increased risk of acute pancreatitis. Although familial chylomicronemia syndrome is mainly caused by mutations in the lipoprotein lipase (LPL) gene, few causal mutations in other genes (ie, APOC2, APOA5, LMF1, and GPIHBP1) have also been reported. In this case report, we present the discovery of a novel mutation in the glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) gene and discuss its pathogenicity through a familial segregation study.
Copyright © 2018 National Lipid Association. Published by Elsevier Inc. All rights reserved.
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