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Lipoprotein Lipase Deficiency (LPLD)

Lipoprotein lipase deficiency (sometimes called familial lipoprotein lipase deficiency or chylomicronaemia, and usually shortened to LPLD, is a rare genetic disorder that affects one person in a million.

People with LPLD have very high triglyceride levels because they lack lipase, the enzyme that clears triglycerides (a kind of fat) from the blood. Raised triglycerides are present from childhood but the condition may not be diagnosed until adulthood.

Symptoms include recurrent abdominal pain, fat-filled spots known as ‘eruptive xanthomata’, and attacks of acute pancreatitis.

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.

Find others with this rare lipid condition by visiting the LPLD Alliance  or RareConnect.

Find out about Jill, who was diagnosed with LPLD when she was just 2 years old.

Check out HEART UK's Low Fat Eating Plan

LPLD - diagnosis
LPLD - diagnosis

LPLD usually starts showing effects in childhood. A quarter of affected children show signs, such as these eruptive xanthomata, before the age of one.

LPLD - how did i get it
LPLD - How did I get it?

LPLD is an autosomal recessive condition – to have LPLD you need to have inherited two faulty LPL genes (one from your mother, one from your father).

LPLD - Who does it affect?
LPLD - Who does it affect?

LPLD affects each person differently. If you have LPLD, work with your consultant to find the best diet & treatments for you.

HEART UK support
HEART UK support

“The support I had from HEART UK was faultless – they were incredible, helping me understand my condition more”.