Familial Chylomicronaemia Syndrome (FCS) is an ultra rare autosomal recessive condition that affects about 1 to 2 in a million. There are about 120 people in the UK who have it, however it is thought that the condition is under-diagnosed and that numbers may be higher.
FCS is known by many different names including
- lipoprotein lipase deficiency or LPLD
- hyperlipidaemia type 1 (fredrickson)
- endogenous hypertriglyceridaemia
- familial hyperchylomicronaemia
- chylomicronaemia syndrome and
- burger-grutz syndrome.
Although present from birth, the age at which which individuals are diagnosed can vary widely. Some are diagnosed at birth, while others are diagnosed much later in life, often after struggling for years with unexplained or mis-diagnosed symptoms.