Genetic Insights on Hypertriglyceridaemia-Induced Acute Pancreatitis in Pregnancy: A Case Series and Literature Review
Abstract
CONTEXT: Hypertriglyceridaemia-induced pancreatitis in pregnancy (HTG-IPP) is a rare but serious condition. There is a paucity of evidence-based guidelines and recommendations for screening and management of HTG-IPP. Individual genomics can predispose certain populations to a higher risk of developing HTG-IPP.
OBJECTIVE: To report on a case series of the management of four individual pregnancies complicated by HTG-IPP, subsequently found to be associated with pathogenic genetic variants involved in triglyceride (TG) metabolism.
METHODS: The medical records of four individual pregnancies from two metropolitan hospitals in Australia were reviewed regarding the management of their HTG-IPP and genetic testing for hypertriglyceridaemia (HTG). A literature review of previous cases of HTG-IPP with an identified pathogenic variant was performed.
RESULTS: The identified genetic variants resulting in a diagnosis of HTG and HTG-IPP were within glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPIHBP1), lipoprotein lipase (LPL) and apolipoprotein A5 (APOA-5). All patients had co-morbid gestational diabetes mellitus (GDM) and were of South Asian or Asian ethnicity. All four patients were effectively managed with fasting, intravenous insulin, omega-3 fatty acids (O3FAs) and very low-fat diet (VLFD) with supplementation with medium-chain TG (MCT) oil.
CONCLUSION: Further genomics research is needed to increase our understanding for its use in predicting risk…
How strong is the evidence?
Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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