Large vessel vasculopathy: An underrecognized complication in Wiskott-Aldrich syndrome

Autoimmune manifestations occur in 25-75% of patients with Wiskott-Aldrich syndrome (WAS), commonly including autoimmune hemolytic anemia, skin vasculitis, IgA nephropathy, arthritis, and inflammatory bowel disease. Large vessel vasculopathy is rarely reported in WAS. We present a review of children with WAS and evidence of large vessel vasculopathy at our center, analyzing clinical, radiological, immunological, and genetic data. Among 80 patients diagnosed with WAS over two decades, four children (aged 10-18 years) developed large vessel vasculopathy. Two had classical WAS with bleeding, recurrent infections, and eczema since infancy, while two had milder phenotypes and presented for the first time during this illness. Clinical features included chest pain and heart failure, abdominal pain, upper limb claudication, and differential blood pressure. Imaging demonstrated aneurysmal dilatation of the aorta and its major branches. Epstein-Barr virus viremia was detected in three patients. All received intravenous immunoglobulin and immunosuppressive therapy; none could undergo hematopoietic stem cell transplantation (HSCT), and three patients died. Large vessel vasculopathy is a rare but life-threatening complication of WAS, underscoring the importance of early recognition and timely consideration of HSCT.