familial lipoprotein lipase deficiency (DOID:14118)
Alliance: disease page
Synonyms: familial hyperlipoproteinemia type I; familial LPL deficiency; Fredrickson type I hyperlipoproteinemia; Fredrickson type I lipaemia; hypercholesterinaemic xanthomatosis; hyperchylomicronemia; mixed hyperglyceridemia
Alt IDs: OMIM:238600, ICD10CM:E78.3, ICD9CM_2006:272.3, ICD9CM:272.3, MESH:D008072, NCI:C84771, ORDO:309015, UMLS_CUI:C0023817
Definition: A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.