Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

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Synonyms: Hyperlipidemia due to HL deficiency | Hyperlipidemia due to HTGL deficiency | Hyperlipidemia due to hepatic lipase deficiency | Hyperlipidemia due to hepatic triglyceride lipase deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Hyperlipidemia due to hepatic triacylglycerol lipase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

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Clinical Trials

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