2.1
Familial chylomicronaemia syndrome (FCS) is a rare genetic metabolic disorder of lipid metabolism caused by homozygous mutations in the lipoprotein lipase gene. It is characterised by high levels of triglycerides in the plasma and a build-up of chylomicrons (the lipoprotein particles responsible for transporting dietary fat from the intestine to the rest of the body). Symptoms include repeated episodes of severe abdominal pain, unpredictable and recurrent episodes of acute pancreatitis, liver and spleen enlargement, and fatigue. Acute pancreatitis is a life-threatening condition for which intensive care may be needed. Repeated attacks of acute pancreatitis may lead to chronic pancreatitis. Diabetes can develop as a result of pancreatitis and often makes FCS more difficult to manage.