Management of a pregnant patient with chylomicronemia from a novel mutation in GPIHBP1: a case report.
Chylomicronemia
GPIHBP1
Hypertriglyceridemia
Pancreatitis
Pregnancy
Journal
BMC pregnancy and childbirth
ISSN: 1471-2393
Titre abrégé: BMC Pregnancy Childbirth
Pays: England
ID NLM: 100967799
Informations de publication
Date de publication:
06 May 2020
06 May 2020
Historique:
received:
14
01
2020
accepted:
22
04
2020
entrez:
8
5
2020
pubmed:
8
5
2020
medline:
26
1
2021
Statut:
epublish
Résumé
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. 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. The case report contributes to the understanding of GPIHBP1-deficient familial chylomicronemia syndrome (FCS) and highlights gestational management of FCS patient.
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSIONS
The case report contributes to the understanding of GPIHBP1-deficient familial chylomicronemia syndrome (FCS) and highlights gestational management of FCS patient.
Identifiants
pubmed: 32375710
doi: 10.1186/s12884-020-02965-1
pii: 10.1186/s12884-020-02965-1
pmc: PMC7201967
doi:
Substances chimiques
GPIHBP1 protein, human
0
Receptors, Lipoprotein
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
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