KIỂU GEN VÀ KIỂU HÌNH CỦA TĂNG TRIGLYCERIDE MÁU TIÊN PHÁT Ở TRẺ EM

Abstract

Primary hypertriglyceridemia is a rare, autosomal recessive disorder characterized by the accumulation of large triglyceride-rich lipopoteins in the circulation (chylomicronemia), which leads to increase serum triglyceride. The genes have been identified as causes of hypertrilyceridemia are LPL, APOC2, APOA5, LMF1, GPIHBP1, and APOE genes. Objectives: to describle clinical characteristics and genotype of children with primary hypertriglyceridemia who were identified mutations in related genes. Subjects and  method: a case series study including clinical and biochemistry data of 6 patients. Mutation analysis using next generation sequencing (familial dyslipidemia panel including 31 genes). Results: The age at presentation was from 1.4 months old to 12 years old. There were 5 girls and 1 boy. Xanthomas was only seen in 1 patient. Acute pancreatitis was reported in 3 patients. Splenomegaly was recognized in 3 patients. Hepatomegaly was reported in 1 patient. Recurrent abdominal pain was presented in 2 cases. The average serum triglyceride level was 16.86 ± 3.77 mmol/l, average of serum total cholesterol level was 3.77 ± 0.74 mmo/l. Mutations in GPIHBP1 gene was identified in 4 cases, mutation in LPL gene was identified in 1 case, mutation in APoE was revealed in 1 patient. All patients responded to low fat diet. Conclusions: Primary hypertriglyceridemia has a dangerous complication of acute pancreatitis. The disease should be diagnosed early for preventive treatment. Genome sequencing analysis need to perform for early treatment and genetic counseling.