Lipoprotein-Lipase Deficiency: Treatment with Omega-3 Fatty Acids and Colestyramine for Severe Gestational Hypertriglyceridaemia and Follow up over Twenty Years

Abstract

We describe the case of a Chinese woman with lipoprotein lipase (LPL) deficiency treated with omega-3 fatty acids and colestyramine during pregnancy at the age of 31 years, and her subsequent management with other lipid regulating drugs over the following 21 years. The coexistence of LPL gene and ApoA2 gene mutations, gestational diabetes and ApoE 2 heterozygosity resulted in marked hypertriglyceridemia and acute pancreatitis during her fourth pregnancy. Treatment of the severe gestational hypertriglyceridaemia with omega-3 fatty acids was effective during pregnancy before the introduction of colestyramine. Our findings indicate that colestyramine should not be used in pregnancy as it may increase triglyceride levels and cause acute pancreatitis. After this pregnancy she was managed using a combination of lipid regulating drugs. Gene replacement therapy for LPL deficiency provides hope as a future effective therapy for this rare serious inherited condition.