Key result
Strict dietary fat restriction and medical management in a pregnant patient with GPIHBP1-deficient familial chylomicronemia syndrome successfully controlled triglyceride levels and resulted in the delivery of a healthy neonate.
Case Report (n=1)
Strict dietary fat restriction and careful multidisciplinary monitoring can enable successful pregnancy outcomes and prevent pancreatitis in patients with familial chylomicronemia syndrome due to GPIHBP1 mutations.
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May guide triglyceride management in rare genetic hyperlipidemia during pregnancy; leaves open need for prospective data before broader adoption.
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.48_49insGCGG (p.P17A fs*22) in the GPIHBP1 gene with previous severe episodes of acute pancreatitis triggered by pregnancy, resulting in adverse obstetrical outcomes. With careful monitoring, the patient underwent an uneventful pregnancy and delivered a baby with no anomalies. CONCLUSIONS: The case report contributes to the understanding of GPIHBP1-deficient familial chylomicronemia syndrome (FCS) and highlights gestational management of FCS patient.
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Lin et al. (2020) conducted a case report in Familial chylomicronemia syndrome (FCS) (n=1). Low-fat diet, fenofibrate, ezetimibe, and early cesarean delivery was evaluated on Pregnancy outcome and triglyceride level control. Strict dietary fat restriction and medical management in a pregnant patient with GPIHBP1-deficient familial chylomicronemia syndrome successfully controlled triglyceride levels and resulted in the delivery of a healthy neonate.
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