DiGeorge Syndrome Complicated by Secondary Antiphospholipid Syndrome Presenting With Vascular Thrombosis

ABSTRACT DiGeorge syndrome (22q11.2 deletion syndrome) is a congenital disorder typically identified in infancy, but adult presentations may feature autoimmune and thrombotic complications. We report a 30‐year‐old woman with known DiGeorge syndrome who presented with progressive right lower extremity pain. She had a recent history of transverse sinus stenting and was on dual anti‐platelet therapy with anticoagulation. Evaluation revealed left internal jugular vein thrombosis, abnormal distal pulses, and positive antiphospholipid antibodies. Her symptoms were attributed to vascular compromise in the setting of autoimmune thrombosis. This case highlights the need for vigilance for late‐onset thrombotic manifestations in adults with DiGeorge syndrome, especially following invasive procedures, and reinforces the value of multidisciplinary and immunologic assessment in complex cases.