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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hyperlipoproteinemia type 1


Other Names for this Disease
  • Hyperlipoproteinemia type I
  • Lipoprotein lipase deficiency
  • LPL deficiency
  • Lipase D deficiency
  • Hyperchylomicro-nemia familial
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I was born with hyperlipoproteinemia type 1, and I would like more information on my disease. I have been pretty much on my own due to lack of knowledge by my doctors.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is hyperlipoproteinemia type 1?

Hyperlipoproteinemia type 1 is an inherited condition that disrupts the normal breakdown of fats in the body, causing a large amount of fat to build up in the blood.[1] This condition is characterized by inflammation of the pancreas (pancreatitis), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly), and small yellow skin lesions called eruptive xanthomas.[1][2] Hyperlipoproteinemia type 1 is caused by mutations in the LPL gene. This condition is inherited in an autosomal recessive pattern.[1] Treatment aims to control the symptoms through a low-fat diet.[2]
Last updated: 3/8/2016

What are the symptoms of hyperlipoproteinemia type 1?

The signs and symptoms of hyperlipoproteinemia type 1 usually begin during childhood. Approximately 25 percent of affected individuals develop symptoms before age 1. The characteristic features of hyperlipoproteinemia type 1 include:[1][2][3]

  • Abdominal pain (may manifest as colic in infancy)
  • Nausea, vomiting, loss of appetite
  • Failure to thrive in infancy
  • Musculoskeletal pain (pain in the muscles and bones)
  • Xanthomas (small, yellow, fat deposits in the skin)
  • Pancreatitis
  • Enlarged liver and spleen (hepatosplenomegaly)

  • In some cases, neurological features develop, including depression, memory loss, and mild intellectual decline (dementia). These symptoms typically go away once dietary fat levels are lowered.[1][3] 
    Last updated: 3/8/2016

    What causes hyperlipoproteinemia type 1?

    Hyperlipoproteinemia type 1 is caused by mutations in the LPL gene. This gene provides instructions for producing an enzyme called lipoprotein lipase. This enzyme helps break down fats called triglycerides, which are carried by molecules called lipoproteins.[1]

    Mutations in the LPL gene lead to a reduction or elimination of lipoprotein lipase activity, which prevents the enzyme from effectively breaking down triglycerides. As a result, triglycerides attached to lipoproteins build up in the blood and tissues, leading to the signs and symptoms of hyperlipoproteinemia type 1.[1]

    Last updated: 3/8/2016

    What is the treatment for hyperlipoproteinemia type 1?

    Treatment for hyperlipoproteinemia type 1 is intended to control blood triglyceride levels with a very low-fat diet. It is recommended that individuals with this condition eat no more than 20 grams of fat per day.[2] Medium-chain fatty acids (such as coconut oil) can be incorporated into the diet, as they are absorbed by the body in a different manner. Dietary counseling may be helpful to maintain adequate calorie and nutrient intake.[3]
    Last updated: 3/8/2016

    References
    Other Names for this Disease
    • Hyperlipoproteinemia type I
    • Lipoprotein lipase deficiency
    • LPL deficiency
    • Lipase D deficiency
    • Hyperchylomicro-nemia familial
    See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.