ESPE Abstracts

Case Report: Patient 1: a 3.6-yr-old girl presented with very severe hypertriglyceridemia (serum triglyceride level >1000mg/dL) in random sampling in the first year of life. She presented with recurring episodes of abdominal pain, and splenomegaly. There is no history of consanguineous marriage. Maternal and paternal family had history of coronary events at an early age. A genetic panel showed homozygous variant chr8:19.953.365 C>T (p.Ala162Val) in the lipoprotein lipase (LPL) gene, of unknown significance. She is currently 4.4-years-old, height 103.4cm (-0.7SDS, WHO), weight 15.3kg (-0.77SDS). Patient 2: a 2.5-yr-old boy, cousin of patient 1, had history of lipemic serum in blood collected for exams to fever investigation when he was 2-month-old. At 1-year-old, the triglycerides level was 7430mg/dL. A genetic panel showed two heterozygous variants in the LPL gene, a previously described variant of unknown significance and a pathogenic variant, chr8:19.954.222 G>A (p.Gly215Glu). Currently, he is 3.2 years old, height 94.4cm (-1.03SDS), weight 13.4kg (-0.79SDS). Both families were advised on very-low-fat diet and discontinuation of breastfeeding. Bezafibrate, liposoluble vitamins and medium chain triglycerides (MCT) replacement were initiated for both patients at 2 years. Despite these, patients still presented with severe hypertriglyceridemia. Current fasting triglycerides levels are 4459mg/dL in patient 1 and 4567mg/dL in patient 2.

Discussion: Familial chylomicronemia syndrome is a rare recessive autosomal disease characterized by the abnormal persistence of chylomicrons in blood after 12-14-hours of fasting. It is caused by mutations in genes that code key molecules in the lipolysis cascade. LPL gene mutations are responsible for over 80% of cases, and here, a new unpublished mutation of chr8:19.953.365 C>T (p.Ala162Val) in the LPL gene was described for the first time to our knowledge. It is classified very severe hypertriglyceridemia when fasting triglyceride levels are greater than 1000mg/dL. Patients can present with eruptive xanthoma, lipemia retinalis, hepatosplenomegaly, acute or recurring episodes of abdominal pain and pancreatitis. Management includes restrictive nonfat diet and discontinuation of breastfeeding for infants. There is poor response to traditional hypolipidemic agents such as fibrates. MCTs can be used as a source of fatty acids and allow for adjusting caloric ingestion and dietary macronutrient content. Regular monitoring of liposoluble serum vitamin levels is recommended, with supplementation as required.

Conclusion: A novel mutation in LPL gene was described. Familial chylomicronemia syndrome is a rare, difficult-to-treat disease that responds unsatisfactorily to fibrates. The basis of treatment consists of non-pharmacological measures such as a low-fat diet.