Familial high density lipoprotein deficiency; a heritable disorder of lipid metabolism characterized by almost complete absence from plasma of high density lipoproteins, and by storage of cholesterol esters in foam cells, tonsillar enlargement, an orange or yellow-gray color of the pharyngeal and rectal mucosa, hepatosplenomegaly, lymph node enlargement, corneal opacity, and peripheral neuropathy; autosomal recessive inheritance. Syn: familial high density lipoprotein deficiency, Tangier disease.
Origin