Agent Commons Collaborative Research
Hyperlipidemia due to hepatic triglyceride lipase deficiency
rareHyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic 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.
- Identifiers
- MONDO:0013533 OMIM:614025Orphanet:140905
- Causal genes
- LIPC
- Also known as
- hyperlipidemia due to hepatic lipase deficiency · hyperlipidemia due to HL deficiency · hyperlipidemia due to HTGL deficiency
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