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GTR Home > Conditions/Phenotypes > Hyperlipoproteinemia, type I


Excerpted from the GeneReview: Familial Lipoprotein Lipase Deficiency
Familial lipoprotein lipase (LPL) deficiency usually presents in childhood and is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Clearance of chylomicrons from the plasma is impaired, causing triglycerides to accumulate in plasma and the plasma to have a milky (lactescent or lipemic) appearance. Symptoms usually resolve with restriction of total dietary fat to ≤20 g/day.

Genes See tests for all associated and related genes

  • Also known as: HDLCQ11, LIPD, LPL
    Summary: lipoprotein lipase

Clinical features


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