Challenging arterial calcification disease associated with rare NT5E gene mutation

Arterial calcification due to deficiency of CD73 is a rare genetic syndrome secondary to NT5E gene mutation characterised by arterial calcification which selectively targets vessels below the diaphragm together with periarticular calcification. ► A complete imaging evaluation with duplex ultrasounds, CT scan and X-ray is of utmost importance to identify the typical arterial and articular calcification pattern. ► Arterial calcification due to deficiency of CD73 treatment is still a challenge with bisphosphonates as the only pharmacological therapy under evaluation by clinical trials.