Severe Familial Hypertriglyceridemia: Successful Treatment With Insulin and a Modified Meal Plan

Abstract Context Mutations in genes encoding the lipoprotein lipase enzyme, its cofactor, or transport proteins can cause severe familial hypertriglyceridemia, resulting in serious complications, such as severe pancreatitis, hepatosplenomegaly, lipid encephalopathy, and failure to thrive. Current treatment includes a low-saturated-fat formula enriched with high medium-chain triglyceride (TGs), oral fibrates, omega-3 fatty acids, or plasmapheresis. Case Description A 71-day-old infant with very severe hypertriglyceridemia and recurrent pancreatitis associated with a likely pathogenic variant in the LPL gene was treated successfully with insulin infusion and a locally prepared low-fat formula feed after stopping breast milk. Subcutaneous insulin was administered daily from 9 to 30 months of age. His serum TG level was markedly lower, although higher than normal. No episodes of hypoglycemia were noted. Fenofibrate and omega-3 fatty acids were ineffective in this infant. At the last follow-up visit, he was 36 months old and growing normally. He was consuming a special meal plan and receiving insulin injections during high-fat meals. Two other young infants with severe hypertriglyceridemia were growing normally after a short course of insulin infusion and the same modified reduced long chain fat diet. Conclusions Insulin is an unusual and affordable therapeutic option for some patients with severe hypertriglyceridemia and can be helpful in the prevention of acute and chronic complications. Locally available cereals and millets with high crude fiber and a low glycemic index, along with medium chain TGs, was used to prepare an economical special formula at home to maintain TG concentrations in the acceptable limits.

[1]  G. Olivecrona Role of lipoprotein lipase in lipid metabolism , 2016, Current opinion in lipidology.

[2]  A. Muruganathan,et al.  Lipemia Retinalis due to Secondary Hyperlipidemia in Type 1 Diabetes Mellitus. , 2016, The Journal of the Association of Physicians of India.

[3]  B. Nordestgaard,et al.  Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency. , 2016, Journal of clinical lipidology.

[4]  Amy S. Shah,et al.  Primary hypertriglyceridemia in children and adolescents. , 2015, Journal of clinical lipidology.

[5]  D. Gaudet,et al.  Targeting APOC3 in the familial chylomicronemia syndrome. , 2014, The New England journal of medicine.

[6]  J. Chen,et al.  Millet Grains: Nutritional Quality, Processing, and Potential Health Benefits , 2013 .

[7]  Karine Tremblay,et al.  Efficacy and long term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open label trial , 2012, Gene Therapy.

[8]  F. Sacks,et al.  Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. , 2012, The Journal of clinical endocrinology and metabolism.

[9]  Mamta Dhaneria,et al.  Fenofibrate: A novel approach in treating uncomplicated neonatal hyperbilirubinemia? , 2012 .

[10]  Jonathan C. Cohen,et al.  Dissociation Between APOC3 Variants, Hepatic Triglyceride Content and Insulin Resistance , 2011, Hepatology.

[11]  I. Jialal,et al.  Management of Hypertriglyceridemia in the Diabetic Patient , 2010, Current diabetes reports.

[12]  A. Catapano,et al.  Apolipoprotein C‐II deficiency presenting as a lipid encephalopathy in infancy , 2003, Annals of neurology.

[13]  T. JaimePoniachik,et al.  Heparina e insulina en el tratamiento de la pancreatitis aguda por hipertrigliceridemia: Experiencia en 5 casos , 2001 .

[14]  J. Pitha,et al.  Plasma levels of remnant particles are determined in part by variation in the APOC3 gene insulin response element and the APOCI-APOE cluster. , 2000, Journal of lipid research.

[15]  M. A. Jabbar,et al.  Insulin therapy for a non-diabetic patient with severe hypertriglyceridemia. , 1998, Journal of the American College of Nutrition.

[16]  R. Hegele,et al.  Familial Lipoprotein Lipase Deficiency , 1993 .

[17]  G. Crepaldi,et al.  Familial lipoprotein lipase and apolipoprotein C-II deficiency. Lipoprotein and apoprotein analysis, adipose tissue and hepatic lipoprotein lipase levels in seven patients and their first degree relatives. , 1983, Atherosclerosis.

[18]  J. Little,et al.  Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. , 1978, The New England journal of medicine.