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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Tangier disease


Other Names for this Disease
  • A-alphalipoprotein neuropathy
  • Alpha high density lipoprotein deficiency disease
  • Analphalipo-proteinemia
  • Cholesterol thesaurismosis
  • Familial high density lipoprotein deficiency disease
More Names
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Your Question

Where can confirmatory testing for Tangier disease be performed? How might this condition be treated?



Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Where can I access confirmatory testing for Tangier disease?

GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. 

Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.

Talk to your health care provider or a genetic professional to learn more about your testing options.
Last updated: 8/19/2011

How might Tangier disease be treated?

To our knowledge there is no specific treatment for Tangier disease. Drugs known to increase high density lipoprotein levels in unaffected people, such as estrogens, nicotinic acid, statins, or phenytoin, do not work in people with Tangier disease.[1]

To reduce the risk for heart and blood vessel disease, people with this condition should maintain a low fat (especially saturated fat) diet and overall healthy lifestyle. Heart disease risk factors such as smoking, high blood pressure, diabetes, obesity, high level of triglycerides and homocysteine in the blood should receive prompt treatment. Fibrates can be used to help lower triglycerides.[1]

To date, no treatment has been found to prevent the progression of this disease, including trials of omega-3-fatty acids, antioxidants, and vitamin E.[1]

Individuals with Tangier disease may benefit from referral to specialized lipid centers for advanced management. Consultation with the following specialists may be required:[2]

  • Lipidologist
  • Endocrinologist
  • Cardiologist
  • Vascular specialist
  • Cardiovascular surgeon
  • Dietitian
Last updated: 8/19/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013

References
  • Assmann G, von Eckardstein A, Brewer HB. Familial analphalipoproteinemia: Tangier disease. In: Scriver et al., eds.. The Metabolic & Molecular Basis of Inherited Disease. 8th Ed. 2001;
  • Singh VN, Citkowitz E. Low HDL Cholesterol (Hypoalphalipoproteinemia) Treatment & Management. eMedicine. 2009; http://emedicine.medscape.com/article/127943-treatment#showall. Accessed 8/19/2011.