Hepatic lipase deficiency

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Disease Overview

Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecules that help transport fats throughout the body. Hepatic lipase deficiency may be associated with an increased risk of developing atherosclerosis and/or heart disease; however, additional research is needed on the long-term outlook of people with this condition. Hepatic lipase deficiency is caused by changes (mutations) in the LIPC gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[10361][10362][10363]


Synonyms

  • Hyperlipidemia due to hepatic triglyceride lipase deficiency
  • LIPC Deficiency
  • Hyperlipidemia due to hepatic lipase deficiency
  • Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
  • Hyperlipidemia due to HL deficiency
  • Hyperlipidemia due to HTGL deficiency

For more information, visit GARD.

National Organization for Rare Disorders