Familial chylomicronemia syndrome: a novel mutation in the lipoprotein lipase gene

Abstract

Familial chylomicronemia syndrome (FCS) (OMIM: 238600) is a rare autosomal recessive disease caused by a biallelic loss-of-function mutation in the lipoprotein lipase (LPL) complex which includes LPL and its co-factors. Patients with FCS have severe hypertiglyceridemia (> 2000 mg/dL). We describe a 15-month-old boy with repeated pancreatitis episodes caused by severe hypertriglyceridemia. Genetic analysis revealed a novel homozygous mutation in the LPL gene, i.e. c.626T>G; p.(Leu209*). The mutation, carried by both parents, has been classified as a type 4 mutation which is likely pathogenic. Treatment aims at decreasing hypertriglyceridaemia by a low-fat diet (< 20g/day) eventually supplemented with medium chain triglyceride (MCT) fat to ensure caloric intake. In 2019, volanesorsen was approved by the European Medicines Agency (EMA) as adjunct treatment for adult patients with genetically proven FCS and persisting episodes of pancreatitis despite the diet.