analphalipoproteinemia

Pronunciation: an-al′fă-lip′ō-prō′tēn-ē′mē-ă

Definition: High-density lipoprotein deficiency; an inheritable 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.

Synonym(s): familial high-density lipoprotein deficiency, Tangier disease

[G. an-, priv., + alpha, α, + lipoprotein + -emia, blood]

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