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Hyperlipoproteinemia type 1

Synonym(s) Familial hyperchylomicronemia
Prevalence 1-9 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
  • E78.3
  • C0023817
  • C1706413
  • D008072
  • 10020606


Familial chylomicronemia, also known as hyperlipoproteinemia type I (HLP type I), is a rare and severe type of hypertriglyceridemia (see this term) characterized by high levels after 12 hours of fasting of serum triglycerides (TG) in the form of chylomicron (CM) particles, and associated with the development of xanthomas, lipemia retinalis, hepatosplenomegaly and an increased risk of acute pancreatitis. It comprises all the familial forms of hyperchylomicronemia, with the most representative being familial lipoprotein lipase (LPL) and familial apolipoprotein C-II (Apo-CII) deficiency (see these terms).

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Clinical genetics review
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