We are unaware of published diagnostic criteria for ACDC. However, in the past, a diagnosis of ACDC has been made by a combination of a thorough medical evaluation and genetic test results. Medical evaluations of people diagnosed with ACDC have ruled out other causes of leg and joint discomfort, such as rheumatoid arthritis or other joint-related problems. MRIs and x-rays of the vasculature of those affected have indicated calcium deposits in artery walls. Genetic testing in an affected person would identify mutations in the NT5E gene, which are the underlying genetic cause of ACDC.
Last updated: 10/16/2014
How might ACDC be treated?
Due to the rarity of this condition, there is very limited information available in the medical literature. We are not aware of specific treatment recommendations for ACDC, or of any therapies currently known to be effective. One affected individual reportedly was treated with surgeries to reroute blood flow through alternate vessels and had a joint amputation in the foot. Several possible future therapies have been proposed. Research is currently under way to investigate possible treatment options.
The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Click here to find trials relating to ACDC. This site may be checked often for new studies, as it is updated regularly.
Last updated: 10/15/2014
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please