An Alternate Explanation

This Clinical Problem-Solving case follows a 48-year-old man with diabetes and chronic kidney disease who presented with peripheral neuropathy, digital ischemia, and progressive tissue necrosis. Initial evaluations suggested warfarin-induced necrosis and calciphylaxis; however, imaging revealed widespread arterial calcification without atherosclerosis. Histopathology showed medial arterial calcification without thrombosis. Genetic testing identified an NT5E missense mutation consistent with Arterial Calcification due to Deficiency of CD73 (ACDC). Treatment with sodium thiosulfate during dialysis led to wound healing and stabilization. The case highlights the diagnostic complexity of nonatherosclerotic peripheral artery disease and the impact of rare genetic calcification syndromes.

This Clinical Problem-Solving case follows a 48-year-old man with diabetes and chronic kidney disease who presented with peripheral neuropathy, digital ischemia, and progressive tissue necrosis. Initial evaluations suggested warfarin-induced necrosis and calciphylaxis; however, imaging revealed widespread arterial calcification without atherosclerosis. Histopathology showed medial arterial calcification without thrombosis. Genetic testing identified an NT5E missense mutation consistent with Arterial Calcification due to Deficiency of CD73 (ACDC). Treatment with sodium thiosulfate during dialysis led to wound healing and stabilization. The case highlights the diagnostic complexity of nonatherosclerotic peripheral artery disease and the impact of rare genetic calcification syndromes.