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:
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.
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.
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.
- Familial lipoprotein lipase deficiency. Genetics Home Reference Website. February 2015; https://ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency.
- Martin LJ, Zieve D. Familial lipoprotein lipase deficiency. MedlinePlus. April 30, 2015; http://www.nlm.nih.gov/medlineplus/ency/article/000408.htm.
- Brunzell JD. Familial Lipoprotein Lipase Deficiency. GeneReviews. April 24, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1308/.