What is FCS?

Familial Chylomicronaemia Syndrome (FCS) is a rare inherited disorder in which the body cannot properly break down fats (triglycerides) after meals. Normally, the enzyme Lipoprotein lipase (LPL) helps chop up large fat-rich particles called chylomicrons so the body can use or store that fat safely. In people with FCS, LPL (or its helpers) is missing or malfunctioning, so chylomicrons accumulate in the bloodstream and triglyceride levels can soar to ten- or even one-hundred-fold above normal.

Because of this accumulation, a cascade of complications can follow:

• Severe, recurrent episodes of inflammation of the pancreas (acute pancreatitis), which can be life-threatening.

• Physical signs such as milky blood samples, fatty deposits under the skin (eruptive xanthomas), or the ‘milky’ appearance of retinal vessels (lipemia retinalis).

• Chronic fatigue, “brain fog”, digestive discomfort, anxiety around food, social isolation — because even a small amount of fat in a meal can trigger symptoms.