Tangier disease

Disease Overview

Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) – the ‘good cholesterol’ – in the blood. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Tangier disease is caused by mutations in the ABCA1 gene. It is inherited in an autosomal recessive pattern.[2858]

Synonyms

• High density lipoprotein deficiency, type 1
• HDLDT1
• High density lipoprotein deficiency, Tangier type
• Analphalipo-proteinemia
• Alpha high density lipoprotein deficiency disease
• A-alphalipoprotein neuropathy
• Cholesterol thesaurismosis
• Familial high density lipoprotein deficiency disease
• Familial Hypoalphalipo-proteinemia
• Hdl lipoprotein deficiency disease