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

Charles Heyningen,Irina Cozma,Malani Arasaradnam

doi:10.5171/2013.810803

Charles Heyningen, Irina Cozma + Show 1 more

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https://doi.org/10.5171/2013.810803

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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.

Highlights

Lipoprotein lipase (LPL) deficiency is a rare inherited disorder of lipoprotein metabolism characterised by severely raised serum triglycerides with an associated high risk for pancreatitis
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 ApoE2 heterozygosity resulted in marked hypertriglyceridemia and acute pancreatitis during her fourth pregnancy

Summary

Introduction

Lipoprotein lipase (LPL) deficiency is a rare inherited disorder of lipoprotein metabolism characterised by severely raised serum triglycerides with an associated high risk for pancreatitis. Treatment with omega-3 fatty acids enhances the clearance of plasma chylomicrons and reduces production of hepatic VLDL. There are very few reports on the use of omega-3 fatty acids in LPLdeficiency and no studies on the use of bile acid sequestrants during pregnancy. We describe the case of a pregnant woman with LPL deficiency treated with omega-3 fatty acids and colestyramine during the pregnancy and her management with other lipid regulating drugs over 21 years. We consider the potential future use of LPL gene therapy which has recently become available in Europe. A 31-year-old Chinese woman was referred to our lipid clinic at 20 weeks gestation (gravida 4, para 3) with severe

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