Scientists analyze multiple genetic variants of familial chilomicronemia syndrome, an ultrarare disease

Familial chilomicronemia syndrome (FCS) is a genetic disease that causes persistent accumulation of triglycerides in the blood—more than 10 times higher than normal. The main symptoms are severe abdominal pain and frequent episodes of pancreatitis (severe inflammation of the pancreas). With a prevalence of 1 or 2 cases per million inhabitants, it is considered an ultrarare and underdiagnosed disease because it is unknown and difficult to diagnose.