Hyperlipoproteinemia type 1
- Hyperlipoproteinemia type I
- Lipoprotein lipase deficiency
- LPL deficiency
- Lipase D deficiency
- Hyperchylomicro-nemia familial
Your QuestionI 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.
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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:
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.
- Familial lipoprotein lipase deficiency. Genetics Home Reference Website. January 2008; http://ghr.nlm.nih.gov/condition=familiallipoproteinlipasedeficiency. Accessed 8/24/2009.
- Dugdale DC, Zieve D. Familial lipoprotein lipase deficiency. Medline Plus Web site. May 3, 2009; http://www.nlm.nih.gov/medlineplus/ency/article/000408.htm. Accessed 8/24/2009.
- Brunzell JD. Familial Lipoprotein Lipase Deficiency. Gene Reviews. July 28, 2009; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lpl. Accessed 8/24/2009.