How Do You Spell FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY?

Pronunciation: [famˈɪlɪəl lˈɪpəpɹˌə͡ʊtiːn lˈɪpe͡ɪs dɪfˈɪʃənsi] (IPA)

Familial Lipoprotein Lipase Deficiency is a genetic disorder that affects the metabolism of fats. The spelling of this word is quite complex and can be broken down using the International Phonetic Alphabet (IPA) transcription. "Familial" is pronounced /fəˈmɪliəl/, "Lipoprotein" is pronounced /ˌlaɪpəʊˈprəʊtiːn/, "Lipase" is pronounced /ˈlaɪpeɪs/ and "Deficiency" is pronounced /dɪˈfɪʃənsi/. The complete word can be pronounced as /fəˈmɪliəl ˌlaɪpəʊˈprəʊtiːn ˈlaɪpeɪs dɪˈfɪʃə

FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY Meaning and Definition

1. 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
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• famjlial lipoprotein lipase deficiency
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• fam9lial lipoprotein lipase deficiency
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• famikial lipoprotein lipase deficiency

Plural form of FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY is FAMILIAL LIPOPROTEIN LIPASE DEFICIENCIES