Management of a pregnant patient with chylomicronemia from a novel mutation in GPIHBP1: a case report.

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 frameshift mutation c.