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

Abstract:

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.

authors

Lin MH,Tian XH,Hao XL,Fei H,Yin JL,Yan DD,Li T

doi

10.1186/s12884-020-02965-1

subject

Has Abstract

pub_date

2020-05-06 00:00:00

pages

272

issue

1

issn

1471-2393

pii

10.1186/s12884-020-02965-1

journal_volume

20

pub_type

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