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Imaging findings of arterial calcification due to deficiency of CD73: A case study
Aniruddh Mandalapu1, Kathryn J Stevens2
1Department of Radiology, University of Rochester School of Medicine, Rochester, USA.
Abstract:
A 52-year-old male developed right knee pain after hiking in Guatemala. On his return he underwent a knee MRI for an indication of medial knee pain, which demonstrated a medial meniscal tear. However, the MRI demonstrated marked tortuosity and dense calcification of the popliteal artery, confirmed on subsequent radiographs. Review of previous CT studies of the abdomen and lower extremities showed severe ectasia and arterial calcification in the femoral and popliteal arteries bilaterally, but no calcifications in the aorta and common iliac arteries. Dual energy CT studies of the extremities demonstrated extensive periarticular soft tissue calcification throughout the wrists, hands, ankle and feet without evidence of uric acid. Review of the electronic medical records revealed a diagnosis of Arterial Calcification due to Deficiency of CD73 (ACDC), a rare genetic disorder presenting with debilitating pain in the wrists and hands, claudication of the calves, thighs and buttocks, progressing to chronic ischemia of the feet which may be limb-threatening. The patient was enrolled in an NIH trial of bisphosphonates and dual-antiplatelet therapy with stabilization of symptoms. This case discusses the imaging findings of this rare condition, differential diagnosis to consider, and current management.
Insights
Arterial Calcification due to Deficiency of CD73 (ACDC) is a rare genetic disorder causing severe vascular calcification and debilitating pain. Early diagnosis and treatment, including bisphosphonates and dual-antiplatelet therapy, can stabilize symptoms.
Area of Science:
- Vascular Medicine
- Genetics
- Radiology
Background:
- Arterial Calcification due to Deficiency of CD73 (ACDC) is a rare autosomal recessive disorder.
- ACDC is characterized by progressive arterial and soft tissue calcification, leading to significant morbidity.
Observation:
- A 52-year-old male presented with knee pain, revealing medial meniscal tear on MRI.
- Incidental findings included marked tortuosity and calcification of the popliteal artery.
- Further imaging revealed extensive arterial calcification in lower extremities and periarticular soft tissue calcification in hands and feet.
Findings:
- Electronic medical records confirmed a diagnosis of Arterial Calcification due to Deficiency of CD73 (ACDC).
- The patient experienced debilitating pain, claudication, and signs of chronic ischemia, consistent with ACDC.
- Imaging findings correlated with the known manifestations of this rare genetic condition.
Implications:
- This case highlights the importance of recognizing ACDC's diverse imaging manifestations beyond vascular calcification.
- Prompt diagnosis and multidisciplinary management, including bisphosphonates and dual-antiplatelet therapy, are crucial for symptom stabilization.
- Understanding ACDC's presentation aids in differential diagnosis for patients with unexplained vascular and soft tissue calcifications.
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