FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY Meaning and
Definition
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Familial Lipoprotein Lipase Deficiency, also known as Familial Chylomicronemia Syndrome or Type I Hyperlipoproteinemia, is a rare genetic disorder characterized by a deficiency in the enzyme lipoprotein lipase (LPL). This enzyme is responsible for breaking down triglycerides, a type of fat, in the bloodstream to be used as energy by various tissues in the body.
In individuals with Familial LPL Deficiency, the lack or reduced activity of LPL leads to the accumulation of triglycerides in the bloodstream. This results in severe hypertriglyceridemia, a condition characterized by extremely high levels of triglycerides in the blood. These high triglyceride levels lead to symptoms such as recurrent abdominal pain, pancreatitis (inflammation of the pancreas), eruptive skin xanthomas (fatty deposits under the skin), and hepatosplenomegaly (enlargement of the liver and spleen).
Familial LPL Deficiency is inherited in an autosomal recessive manner, meaning that both copies of the gene responsible for producing LPL must be abnormal for the condition to occur. The disorder can be diagnosed through clinical symptoms, biochemical testing, and genetic testing.
Treatment for Familial LPL Deficiency involves the adoption of a very low-fat diet and restriction of dietary fat intake. Medications such as fibrates or omega-3 fatty acids may be prescribed to help lower triglyceride levels. Genetic counseling is also important for affected individuals and their families, as they have an increased risk of passing on the condition to their children.
Common Misspellings for FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY
- damilial lipoprotein lipase deficiency
- camilial lipoprotein lipase deficiency
- vamilial lipoprotein lipase deficiency
- gamilial lipoprotein lipase deficiency
- tamilial lipoprotein lipase deficiency
- ramilial lipoprotein lipase deficiency
- fzmilial lipoprotein lipase deficiency
- fsmilial lipoprotein lipase deficiency
- fwmilial lipoprotein lipase deficiency
- fqmilial lipoprotein lipase deficiency
- fanilial lipoprotein lipase deficiency
- fakilial lipoprotein lipase deficiency
- fajilial lipoprotein lipase deficiency
- famulial lipoprotein lipase deficiency
- famjlial lipoprotein lipase deficiency
- famklial lipoprotein lipase deficiency
- famolial lipoprotein lipase deficiency
- fam9lial lipoprotein lipase deficiency
- fam8lial lipoprotein lipase deficiency
- famikial lipoprotein lipase deficiency
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