Article
Management of a pregnant patient with chylomicronemia from a novel mutation in GPIHBP1: a case report.
BMC pregnancy and childbirth - 6 May 2020
Lin Min-Huan, Tian Xiao-Hui, Hao Xiu-Lan, Fei Hui, Yin Jian-Lan, Yan Dan-Dan, Li Tian
Abstract excerpt
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive lipid disorder often associated with recurrent episodes of pancreatitis. It is documented in most cases with FCS due to the mutations of key proteins in lipolysis, including LPL, APOC2, APOA5, LMF1 and GPIHBP1. CASE PRESENTATION: We report the successful management of a 35-year-old pregnant woman carrying a novel homozygous...
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