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Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Disease definition

A rare hyperalphalipoproteinemia 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: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

Detailed information

Guidelines

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.