Familial chylomicronemia syndrome: A comprehensive clinical and genetic approach

The familial chylomicronemia syndrome (FCS) is characterized by very high levels of circulating triglycerides. FCS caused lipoprotein lipase (LPL) deficiency resulting from homozygous or biallelic loss-of-function variants in the LPL other related genes. Here, we report a case severe hypertriglyceridemia refractory to conventional therapy male patient diagnosed at 33 years age. activity was below 20%. During clinical course, developed acute pancreatitis addition complications. Two heterozygous (c.984G>A and c.1139+6T>C) which had not been previously reported major databases were identified gene. Treatment with volanesorsen proposed based on its approved indication as an adjunct diet adult patients confirmed risk for pancreatitis. Volanesorsen effective well-tolerated, did experience abdominal pain any manifestations. assessment genetic characterization essential guide treatment decisions during follow-up, patient’s history, their comorbidities stigmas.