Familial chylomicronaemia syndrome in pregnancy - report of two cases managed with plasma exchange.

Abstract

Familial chylomicronaemia syndrome (FCS) is a rare genetic disorder characterised by significantly elevated triglyceride levels which increases the risk of acute pancreatitis. Due to the changes in lipid metabolism during pregnancy, triglyceride levels may rise further, particularly in the third trimester, and cause challenges in the management of these patients. Apart from strict dietary restriction of all fats, there is limited evidence on the efficacy of pharmacological treatment with omega-3 fatty acids and fibrates in maintaining triglyceride levels below the desired threshold of 10 mmol/L. Familial chylomicronaemia syndromes are particularly resistant to treatment and escalation of treatment to more invasive procedures such as plasma exchange may be required in pregnancy. We present two cases of FCS in pregnancy which posed different challenges and both required management with plasma exchange but led to the safe delivery near term without adverse consequences to the mother or fetus.