Orphanet: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
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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

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