Arterial Calcification due to Deficiency of CD73

Arterial Calcification due to Deficiency of CD73 (ACDC) is a rare genetic vascular disorder. ACDC causes calcium to build up in the arteries below the waist, and in the joints (usually wrists, hands, and feet). ACDC is different from peripheral artery disease (PAD) because it is not caused by atherosclerosis (plaque buildup).


Symptoms:

The main symptoms of ACDC are:
• Cramping in leg muscles when walking (claudication)
• Bouts of intense joint pain and swelling

Symptoms usually begin in the second decade of life.


Diagnosis:

ACDC is diagnosed using:

Ankle-brachial index (ABI). This test compares the blood pressure in your ankle with the blood pressure in your arm.

X-Ray The calcium deposits caused by ACDC can be seen on an X-Ray without contrast. This does not happen with plaque that causes other arterial diseases.

DNA Analysis Genetic testing is used to identify a mutation in the NT5E gene.

An X-Ray of the knees of a person with ACDC.

Treatment:

There is no known cure for ACDC. Yet, there are many things that can be done to help manage the symptoms:

Get regular exercise: Going for walks, even for short distances, will help blood flow. Walks also prevent many symptoms related to poor circulation.

Eat a healthy diet. Maintaining a healthy weight will help with walking.

Medications: Antiplatelets (help prevent blood clotting) can be used to treat ACDC. Ibuprofen or other pain medications may help with joint pain.

Surgery: Similar to patients with severe peripheral arterial disease, patients with ACDC who have difficulty walking may need surgery. For example, an endarterectomy may be performed to remove calcium. Or, an artery bypass can help redirect blood around blocked arteries.


Note: this condition is highly rare and affects <1% of the population. Therefore, consult your healthcare provider if you have any additional questions regarding this vascular issue. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.


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