Tangier Disease

Not Verified
This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

Disease overview

ABCA1 biallelic variants impair the body's ability to perform reverse cholesterol transport from cells to apolipoprotein A1, resulting in markedly low levels of HDL.

Common symptoms

Fatty deposits can form in several organsclassically including the tonsils (visibly yellow-orange)throatliverspleenlymph nodesand nerves (causing peripheral neuropathy). Corneal clouding may occur. Low HDL contributes to increased cardiovascular disease risk (such as earlier-onset atherosclerosis).

WHEN TO SUSPECT

  • Recommendation 1

    HDL and Apo-A1 levels usually are both <5 mg/dL. Establishing diagnosis generally requires molecular genetic testing for biallelic ABCA1 variant. [

HOW TO TEST

  • Recommendation 1

    HDL and Apo-A1 levels usually are both <5 mg/dL. Establishing diagnosis generally requires molecular genetic testing for biallelic ABCA1 variant. [

TREATMENT

  • Recommendation 1

    There are no specific treatments for Tangier Disease. Patients may need surgery for enlarged tonsils or spleen, or supportive treatment for neuropathy.

PRIMARY CARE

  • Recommendation 1

    Patients should be seen annually for surveillance including physical exam (especially neurologic, ophthalmologic, and hepatosplenomegaly assessments). In adulthood, patients should receive annual noninvasive assessment of atheroscleotic burden. Threshold should be low for initiating lipid-lowering therapy.

FURTHER SUPPORT

  • Recommendation 1

    Depending on manifestations, patients may need multiple specialists including neurologists, ophthalmologists, cardiologists, otolaryngologists, and hematologists. . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

  • Recommendation 1

    Although gene therapy has been proposed as a future idea for treatment, no clinical trials are currently recruiting.

Sources

No data available

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