Tangier disease: epidemiology, pathophysiology, and management.

Abstract excerpt

Tangier disease is one of the most severe forms of familial high-density lipoprotein (HDL) deficiency. Since its discovery it has been diagnosed in about 100 patients and is characterized by severe plasma deficiency or absence of HDL, apolipoprotein A-I (apoA-I, the major HDL apolipoprotein) and by accumulation of cholesteryl esters in many tissues throughout the body. The biochemical signs of this condition are...

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• Amides
• ATP Binding Cassette Transporter 1
• Cholesterol Esters
• Esters
• Lipoproteins, HDL