ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Tangier disease
Other Resources UpToDate PubMed

Tangier disease

Contributors: Bo Hoon Lee MD, Jamie Adams MD, Richard L. Barbano MD, PhD
Other Resources UpToDate PubMed

Synopsis

Tangier disease is an extremely rare autosomal recessive disorder caused by a mutation in the ATP-binding cassette transporter A1 (ABCA1) gene, which plays an important role in cholesterol transport. The mutation leads to severe high-density lipoprotein (HDL) deficiency and accumulation of cholesterol and lipids in various tissues. About 100 cases have been documented worldwide.

Clinical signs include enlarged orange tonsils (from deposition of cholesterol ester), neuropathy, hepatosplenomegaly, lymphadenopathy, corneal opacities, and premature atherosclerosis resulting in early cardiovascular disease in adulthood.

While HDL deficiency may be noted incidentally early in life, affected children are most often diagnosed due to enlarged orange tonsils. Patients diagnosed in adulthood have presented with neuropathy or clinical features resulting from hepatosplenomegaly, premature cardiovascular disease, or other signs and symptoms.

For more information, see OMIM.

Codes

ICD10CM:
E78.6 – Lipoprotein deficiency

SNOMEDCT:
723579009 – Tangier disease

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

  • Apolipoprotein A-1 deficiency
  • Lecithin-cholesterol acyltransferase (LCAT) deficiency
  • Type 1 hyperlipoproteinemia or familial chylomicronemia
  • Inherited peripheral neuropathies

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:09/12/2019
Last Updated:09/12/2019
Copyright © 2021 VisualDx®. All rights reserved.
Tangier disease
Print  
Tangier disease : Hepatomegaly, Distal muscle weakness, Hypocholesterolemia, Neuropathy peripheral, Paresthesias, Splenomegaly
Copyright © 2021 VisualDx®. All rights reserved.