Genetic Insights on Hypertriglyceridaemia-Induced Acute Pancreatitis in Pregnancy: A Case Series and Literature...

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.

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.

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.

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.

Further genomics research is needed to increase our understanding for its use in predicting risk of severe gestational HTG. With additional case identification, particular variants of pathogenic interest can be identified and screened for antenatally in patients with a moderate fasting HTG of more than 200 mg/dL (11.1 mmol/L) in the absence of other causative factors. Pre-conception optimisation of TGs and regular monitoring in pregnancy can reduce the incidence and disease burden associated with HTG-IPP and HTG.