Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene.
Ka Young KimYou Joung HeoJung Min KoYoung Ah LeeChoong Ho ShinChang Seok KiYun Jeong LeePublished in: BMC endocrine disorders (2024)
These siblings' case of familial chylomicronemia syndrome caused by rare GPIHBP1 deletions highlight the implementation of copy number variants-beyond next-generation sequencing-as an important consideration in diagnosis. Accurate genetic diagnosis is necessary to establish the etiology of severe hypertriglyceridemia, which increases the risk of pancreatitis.