Familial Chylomicronaemia Syndrome

Often shortened to FCS, Familial Chylomicronaemia Syndrome is sometimes referred to as Lipoprotein Lipase Deficiency (LPLD) or chylomicronaemia.

It is a rare genetic disorder that affects about one person in every million.

People with FCS have very high triglyceride levels. This is because they lack lipase, the enzyme that clears triglycerides (a kind of fat) from their blood. FCS affects people from the time they are born, but the severity of the condition can vary from person to person. Those with more severe symptoms tend to be diagnosed in infancy or childhood. Others may not be diagnosed until they are teenagers or adults.

Typical symptoms include:

  • regular bouts of stomach pain
  • fat-filled spots on the skin (called ‘eruptive xanthomata’)
  • attacks of acute pancreatitis

The pancreas is one of the body’s main organs. It is responsible for producing some of the enzymes that we need for digestion. It also makes insulin and glucagon, both of which play an important role in controlling our blood sugar.

Acute pancreatitis can be very serious. It can result in urgent admission to hospital, damage to the pancreas organ and can also be life threatening.

Some people may go on to develop a form of diabetes due to the stress and damage that the pancreas undergoes.

Treatment

Most medications have only modest benefits, although new ones are being developed. The main treatment is by diet, which must be as low in fat as possible.

Read about HEART UK's Low Fat Eating Plan

Factsheets

Download some of our factsheets to learn more:

More information

You can learn more about LPLD on the LPLD Alliance website

 
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