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Tangier disease or hypoalphalipoproteinemia is an extremely rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as "good cholesterol", in the bloodstream. [2] Worldwide, approximately 100 cases have even been identified. [3] [4]
High-density lipoprotein (HDL) is one of the five major groups of lipoproteins. [1] Lipoproteins are complex particles composed of multiple proteins which transport all fat molecules around the body within the water outside cells. They are typically composed of 80–100 proteins per particle (organized by one, two or three ApoA). HDL particles ...
Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, ... Lecithin cholesterol acyltransferase deficiency (LCAT) HDLCQ4 610239: 4q32 HDLD3 605201: 11q23.3
Other functions of HDL-C is promoting cardiovascular health such as antioxidation effects, protection against thrombosis, maintenance of endothelial function, and maintaining low blood viscosity. [1] Due to the positive functions of HDL cholesterol, a low level indicates dyslipidemia and is a risk factor for complications. [1]
Mutations in this gene have been associated with Tangier disease and familial high-density lipoprotein deficiency. ABCA1 has been shown to be reduced in Tangier disease which features physiological deficiencies of HDL. [22] [23] Leukocytes' ABCA1 gene expression is upregulated in postmenopausal women receiving hormone replacement therapy (HRP ...
In those with loss-of-function variants in both copies of ANGPTL3, low LDL-C, low HDL-C, and low triglycerides are seen ("familial combined hypolipidemia"). [3] Hooft disease is a rare condition evidenced by low blood lipid level, red rash and mental and physical retardation. [citation needed]
Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism. [1] The disease has two forms: [ 2 ] Familial LCAT deficiency, in which there is complete LCAT deficiency, and Fish-eye disease , in which there is a partial deficiency.
Hepatic lipase deficiency is a rare, autosomal recessive disorder that results in elevated high-density lipoprotein (HDL) cholesterol due to a mutation in the hepatic lipase gene. Clinical features are not well understood and there are no characteristic xanthomas .