Intestinal ischemia in paroxysmal nocturnal hemoglobinuria with associated aplastic anemia: a rare and challenging association (case report)

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematological disorder due to an acquired genetic mutation in phosphatidylinositol glycan anchor biosynthesis, class A (PIGA) gene. Paroxysmal nocturnal hemoglobinuria has different manifestations, the most common being hemolysis, thrombosis and aplastic anemia. For the latter, aplastic anemia can be both the cause and the consequence of PNH. Complement inhibitors, such as eculizumab and ravulizumab represents the cornerstone in the management of PNH as it is associated with fewer recurrence of hemolytic and thrombotic events. However, PNH associated aplastic anemia does not improve with complement inhibitor, and is managed either with allogeneic stem cell transplantation or immunosuppressive therapy. The major cause of death in PNH is thrombosis, which is often venous, and of unusual locations. Intestinal ischemia represents a rare location of thrombosis in PNH. There are a few cases reported, where the management was either surgical or conservative. Many of these reports showed a recurrence of thrombosis, and the outcome has been fatal in some. Severe aplastic anemia adds a level of difficulty to the therapeutic challenge as both resection surgery and efficient anticoagulation become infeasible or delicate. We report the case of a 24-year-old woman, who was diagnosed with severe aplastic anemia associated with PNH, for which she was put on triple immunosuppressive therapy. Eight months following the diagnosis, the patient complained of acute abdominal pain with vomiting. A contrast enhanced computed tomography scan showed a jejunal ischemia with signs of perforation. Due to the low platelet level, a conservative approach was taken consisting of oral feeding cessation, hydration, anticoagulation, and antibiotics therapy. This raises the question of whether a complement inhibitor therapy could have prevented this potentially fatal complication.