A complicated pregnancy in a patient with lipodystrophic diabetes attributable to a peroxisome proliferator-activated receptor gamma (PPARG) mutation.

Background: We describe an unplanned pregnancy in a 19-year-old with lipodystrophic diabetes caused by a mutation in the peroxisome proliferator-activated receptor gamma (PPARG) gene. The pregnancy was complicated by poor compliance with treatment, severe hypertriglyceridaemia and pancreatitis.

Case Report: The patient presented at 6 weeks' gestation with an HbA(1c) of 140 mmol/mol (15%), cholesterol 8.1 mmol/l and triglycerides 20.1 mmol/l. She wished to continue the pregnancy so lipid-lowering therapy was discontinued. She was severely insulin resistant and poorly compliant with diet and medication. A continuous subcutaneous insulin infusion was required for efficient delivery of large doses of basal insulin, alongside injected mealtime boluses, (up to 300 units insulin per day). At 17 weeks' gestation she developed acute pancreatitis secondary to hypertriglyceridaemia (triglycerides > 100 mmol/l) and required plasmapheresis. Lipid-lowering therapy was reinstated in the third trimester and plasmapheresis was required repeatedly to maintain triglycerides < 10 mmol/l. Delivery was arranged at 32 weeks, because of deteriorating glycaemic and lipid control (blood pressure was normal). Following betamethasone for fetal lung maturation, 20 units/h of intravenous insulin were required to maintain glycaemic control. A baby boy with significant subsequent developmental delay was delivered.

Discussion: The features of PPARG mutations are discussed, with literature on lipodystrophy and pancreatitis in pregnancy reviewed. There are few documented cases of pregnancy in women with PPARG mutations. The notable features of this case include the consequences of non-concordance with treatment, the use of continuous subcutaneous insulin infusion to treat insulin-resistant diabetes and the need for repeated plasmapheresis during pregnancy to avert pancreatitis.