# DiGeorge Syndrome Complicated by Secondary Antiphospholipid Syndrome Presenting With Vascular Thrombosis

## TL;DR

A 30-year-old woman with DiGeorge syndrome developed thrombosis linked to antiphospholipid syndrome, highlighting the need for vigilance in adults with this condition.

## Contribution

This case report highlights a rare thrombotic complication in adult DiGeorge syndrome linked to antiphospholipid syndrome.

## Key findings

- DiGeorge syndrome can present with late-onset thrombotic complications like antiphospholipid syndrome in adults.
- Neuropathic pain may signal underlying autoimmune vascular pathology in DiGeorge syndrome.
- Multidisciplinary evaluation is crucial for managing thrombosis in post-procedural DiGeorge syndrome patients.

## 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.

Neuropathic pain in adult DiGeorge syndrome may signal underlying autoimmune vascular pathology such as antiphospholipid syndrome. This rare presentation underscores the need for heightened clinical suspicion and multidisciplinary evaluation in post‐procedural patients, where early recognition of thrombosis can prevent irreversible ischemic damage and guide immunologic and anticoagulant therapy.