Pregnancy in Familial Chylomicronemia syndrome: Plasmapheresis as Therapeutic Approach

Abstract

Familial Chylomicronemia Syndrome (FCS) is a rare autosomal recessive disease where functional loss of lipoprotein lipase results in severe hypertriglyceridemia. Patients often experience recurrent acute pancreatitis, a life-threatening disease. Serum triglycerides are physiologically elevated several folds during pregnancy, which especially endanger patients with FCS to develop hypertriglyceridemic pancreatitis and complications like miscarriage. Despite the development of new drugs (volanesorsen, evinacumab or gene therapy) for FCS, their safety in pregnancy has not yet been confirmed and their treatment represents a big challenge. Current guidelines available suggest strict low-fat diet and therapeutic plasmapheresis in the case of hypertriglyceridemic pancreatitis. We present a case of succesfull pregnancy outcome in female patient with FCS achieved by multidisciplinary approach including plasmapheresis. For the first time we used therapeutic plasmaferesis in order to prevent pancreatitis and potential complications for both mother and child. The patient had no adverse reactions and fetal monitoring was performed before, during and after procedure with no abnormalities registered. Patient was followed up until the delivery of healthy baby boy who was followed the first five years of the childhood.