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Hyperlipoproteinemia type 1

ORPHA411
Synonym(s) Familial hyperchylomicronemia
Prevalence 1-9 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • E78.3
OMIM
UMLS
  • C0023817
  • C1706413
MeSH
  • D008072
MedDRA
  • 10020606

Summary

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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Summary information
Clinical genetics review
  • EN (2014)
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