Tangier disease

What is Tangier disease?

Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

Other condition names

• ATP-binding cassette transporter A1 deficiency
• Analphalipoproteinemia
• Defective adenosine triphosphate-binding cassette transporter A1

Inheritance type

Autosomal recessive

Prevalence

• Worldwide: <1 in 1,000 000
• Europe: <1 in 1,000 000

Age of Onset

• Adolescent
• Adult
• Childhood
• Infancy
• Neonatal