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Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Disease definition

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia disorder characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.

ORPHA:140905

Classification level: Disorder
  • Synonym(s):
    • Hyperlipidemia due to HL deficiency
    • Hyperlipidemia due to HTGL deficiency
    • Hyperlipidemia due to hepatic lipase deficiency
    • Hyperlipidemia due to hepatic triglyceride lipase deficiency
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: E78.4
  • OMIM: 614025
  • UMLS: -
  • MeSH: -
  • GARD: 12864
  • MedDRA: -

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.