Infant with probable catastrophic antiphospholipid syndrome successfully managed with rituximab.

Abstract

The antiphospholipid syndrome (APS) is an acquired thrombophilic disorder characterized by the presence of autoantibodies to a variety of phospholipids and phospholipid-binding proteins. Clinical manifestations range from being asymptomatic to having imminently life-threatening events. Catastrophic antiphospholipid syndrome (CAPS) occurs in <1% of patients with APS and is defined by multiple small-vessel occlusions that lead to multiple-organ failure and is associated with high morbidity and mortality rates. Here we report the case of a 3-month-old boy with probable CAPS who presented to us with digital necrosis and pulmonary hemorrhage. In addition, a skin biopsy demonstrated multiple small-vessel thromboses without signs of vasculitis. Results of testing for autoantibodies were positive for anti-beta(2) glycoprotein I (anti-beta(2)-GPI) only. His treatment consisted of high-dose steroids, immunoglobulin therapy, exchange transfusion, cyclophosphamide, and rituximab as well as iloprost and bosentan as vasodilators for his ischemia; he showed an excellent clinical response. To the best of our knowledge, this is the youngest patient with probable CAPS, the first reported patient to test positive for anti-beta(2)-GPI antibodies and negative for anticardiolipin antibodies and lupus anticoagulant, and the second patient reported to be successfully treated with an immunomodulatory regimen including rituximab.