title: 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.
authors.affiliation: or Olaf Neth, MD, Department of Pediatric Infectious Diseases and Immunology, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain. estibaliziglesias@hotmail.com.
authors.forename: Estibaliz
authors.initials: E
authors.lastname: Iglesias-Jiménez
authors.forename: Marisol
authors.initials: M
authors.lastname: Camacho-Lovillo
authors.forename: Dolores
authors.initials: D
authors.lastname: Falcón-Neyra
authors.forename: Jose
authors.initials: J
authors.lastname: Lirola-Cruz
authors.forename: Olaf
authors.initials: O
authors.lastname: Neth
mesh_terms: D000888:Antibodies, Anti-Idiotypic / Q000097:blood; D000911:Antibodies, Monoclonal / Q000627:therapeutic use*; D058846:Antibodies, Monoclonal, Murine-Derived; D016736:Antiphospholipid Syndrome / Q000175:diagnosis / Q000188:drug therapy* / Q000276:immunology / Q000473:pathology; D003131:Combined Modality Therapy; D004359:Drug Therapy, Combination; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use*; D007223:Infant; D008297:Male; D000069283:Rituximab; D012867:Skin / Q000473:pathology; D053482:beta 2-Glycoprotein I / Q000276:immunology
chemical_list: D000888:Antibodies, Anti-Idiotypic; D000911:Antibodies, Monoclonal; D058846:Antibodies, Monoclonal, Murine-Derived; D007155:Immunologic Factors; D053482:beta 2-Glycoprotein I; D000069283:Rituximab