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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hyperlipoproteinemia type 1


Other Names for this Disease
  • Chylomicronemia syndrome
  • Chylomicronemia, familial
  • Familial chylomicronemia
  • Hyperchylomicro-nemia familial
  • Hyperlipemia idiopathic Burger-Grutz type
More Names
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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.[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. Mutations in the LPL gene cause hyperlipoproteinemia type 1, and this condition is inherited in an autosomal recessive pattern. The treatment for hyperlipoproteinemia type 1 is a low-fat diet.[2]
Last updated: 8/24/2009

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:[2][3]

  • Abdominal pain (may manifest as colic in infancy)
  • Nausea, vomiting, loss of appetite
  • Failure to thrive in infancy
  • Musculoskeletal pain
  • Xanthomas (small, yellow, fat deposits in the skin)
  • Pancreatitis
  • Enlarged liver and spleen (hepatosplenomegaly)
  • Last updated: 8/24/2009

    What causes hyperlipoproteinemia type 1?

    Mutations in the LPL gene cause hyperlipoproteinemia type 1. This gene provides instructions for producing an enzyme called lipoprotein lipase. This enzyme helps break down fat-carrying molecules (lipoproteins). Lipoproteins normally carry fat molecules from the intestine into the bloodstream. As lipoproteins are broken down, they release fats that the body uses for energy or puts into storage. Mutations in the LPL gene prevent the enzyme from breaking down lipoproteins effectively. As a result, fatty substances build up in the bloodstream, leading to the signs and symptoms of hyperlipoproteinemia type 1.[1]

    Last updated: 8/24/2009

    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. Fat intake usually must be less than 20 grams per day to prevent symptoms. 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: 8/24/2009

    References