|Signs and Symptoms||Approximate number of patients (when available)|
|Autosomal recessive inheritance||-|
|Impaired pain sensation||-|
|Impaired temperature sensation||-|
|Left ventricular hypertrophy||-|
|Opacification of the corneal stroma||-|
|Peripheral axonal neuropathy||-|
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.
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.
Individuals with Tangier disease may benefit from referral to specialized lipid centers for advanced management. Consultation with the following specialists may be required:
The 11th Annual North American Genetic Analysis of ABC Transporters Workshop
Wednesday, September 24, 2014 -
Thursday, September 25, 2014
Location: NCI-Frederick, Frederick, MD
Description: This workshop features presentations from graduate students, post-docs., and senior investigators studying the role of ATP Cassette Binding Proteins in human disease. Phylogenetic studies, model systems, and bioinformatic techniques that shed light in this rapidly developing research area are presented. Because student presentations predominate, unpublished results often are first disclosed at these workshops.
Contact: Dr. Michael Dean,(301) 846-5931,email@example.com
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
Where can confirmatory testing for Tangier disease be performed? How might this condition be treated?