Is there a cure for lipoprotein lipase deficiency?

A proportion of LPL deficient individuals can be successfully treated by dietary restriction of fats, but many are still plagued by recurrent abdominal pain and episodes of acute pancreatitis. The goal of restricting fat intake is to reduce chylomicronemia and hypertriglyceridemia enough to prevent symptoms.

What happens to deficiency of lipoprotein lipase?

Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lead to problems with the pancreas and liver, which in turn can lead to diabetes.

What can cause lipoprotein lipase deficiency?

Causes. Familial lipoprotein lipase deficiency is caused by a defective gene that is passed down through families. People with this condition lack an enzyme called lipoprotein lipase. Without this enzyme, the body cannot break down fat from digested food.

What protein activates lipoprotein lipase?

Apolipoprotein C-II
Apolipoprotein C-II (apoC-II), a protein constituent of human very low density lipoproteins, is the activator for lipoprotein lipase (LPL; triacylglycerol acyl-hydrolase, EC 3.1. 1.3).

Where is lipoprotein lipase found?

The LPL gene provides instructions for making an enzyme called lipoprotein lipase. This enzyme is found primarily on the surface of cells that line tiny blood vessels (capillaries) within muscles and in fatty (adipose) tissue.

Can low lipase cause high triglycerides?

Description. Hepatic lipase deficiency is a disorder that affects the body’s ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood.

What are the signs and symptoms of lipoprotein lipase deficiency?

Symptoms

  • Abdominal pain (may appear as colic in infants)
  • Loss of appetite.
  • Nausea, vomiting.
  • Pain in the muscles and bones.
  • Enlarged liver and spleen.
  • Failure to thrive in infants.
  • Fatty deposits in the skin (xanthomas)
  • High triglyceride levels in the blood.

How is Hyperchylomicronemia treated?

Treatment. There are currently no FDA-approved treatments for FCS. Traditional treatments to reduce lipid levels such as statins, fibrates and niacin are not effective in people with FCS because the effectiveness of these medications depends, at least in part, on a functional lipoprotein lipase enzyme.

What inhibits lipoprotein lipase?

Apolipoproteins (apo) C-I and C-III are known to inhibit lipoprotein lipase (LPL) activity, but the molecular mechanisms for this remain obscure. We present evidence that either apoC-I or apoC-III, when bound to triglyceride-rich lipoproteins, prevent binding of LPL to the lipid/water interface.

Does insulin activate LPL?

Thus, insulin appears to stimulate adipose tissue lipoprotein lipase activity in humans. This effect of insulin is delayed when compared with antilipolysis and the fall in plasma triglyceride.

Is LPL activated by insulin?

Insulin directly stimulates the LPL activity in adipose tissue, as shown by in vivo and in vitro studies (Picard et al., 1999, Ong et al., 1988), but decreases such activity in the skeletal muscle of humans and rats (Farese et al., 1991, Gorski and Stankiewick-Choroszucha, 1982).