A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome

作者：Paquette Martine; Hegele Robert A; Pare Guillaume; Baass Alexis^*

来源：Journal of Clinical Lipidology, 2018, 12(2): 504-508.

DOI：10.1016/j.jacl.2018.01.011

• Familial chylomicronemia syndrome
• GPIHBP1
• Triglycerides
• Pancreatitis
• Pregnancy

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.

• 出版日期2018-4