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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
- Clinical practice guidelines
- Deutsch (2015) - AWMF


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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