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| Disease found: | Tangier Disease |
| Current as of: | October 8, 2024 |
| 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. [more info] |
| Signs and Symptoms: | Fatty deposits can form in several organs, classically including the tonsils (visibly yellow-orange), throat, liver, spleen, lymph nodes, and nerves (causing peripheral neuropathy). Corneal clouding may occur. [more info] Low HDL contributes to increased cardiovascular disease risk (such as earlier-onset atherosclerosis). [more info] |
| Diagnosis: | HDL and Apo-A1 levels usually are both <5 mg/dL. Establishing diagnosis generally requires molecular genetic testing for biallelic ABCA1 variant. [more info] |
| Treatment: | There are no specific treatments for Tangier Disease. Patients may need surgery for enlarged tonsils or spleen, or supportive treatment for neuropathy. [more info] |
| Clinical Management: | 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. [more info] |
| Referral: | Depending on manifestations, patients may need multiple specialists including neurologists, ophthalmologists, cardiologists, otolaryngologists, and hematologists. [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Although gene therapy has been proposed as a future idea for treatment, no clinical trials are currently recruiting. |