Avascular Necrosis of the Humeral Head in a Patient with Methylenetetrahydrofolate Reductase 1 Gene Polymorphism: A Case Report

Case: Atraumatic avascular necrosis (AVN) of the humeral head is a debilitating condition with an insidious onset and progressively worsening pain. We report a case of a woman who presented with left shoulder pain with a medical history of a rare genetic polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene. Advanced imaging demonstrated focal AVN of her humeral head. Treatment varies based on the stage of the disease, which, in this case, included an ultrasound-guided intra-articular corticosteroid injection and oral methylated supplementation.

Conclusion: In patients with no other known risk factors presenting with AVN of the humeral head, MTHFR polymorphism should be strongly considered a possible cause of AVN.