A case of classic paroxysmal nocturnal hemoglobinuria

Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic anemia characterized by a triad of intravascular hemolysis, pancytopenia and tendency for venous thrombosis. Patients with PNH present with these features which occur in various combinations as described in this case report. Several episodes of intravascular hemolysis result in hemoglobinuria associated with thrombosis at unusual sites and these patients may have varying degree of bone marrow disorders. Diagnosis can be confirmed by flow cytometry of blood granulocytes andFLAER assays. Management was supportive with transfusion and treatment of thrombosis in the past. But in the recent years the evolution of treatment strategies like hemopoietic stem cell transplantation and complement inhibition with eculizumab though very costly have been shown to be very effective. Case Report: Here we report a young girl who presented with abdominal pain, distension with a history of headache and jaundice. On evaluation, we found there was bicytopenia with evidence for hemolytic anemia and venous thrombosis of cerebral venous sinuses, hepatic veins and intrahepatic portion of IVC. With these clinical features, we suspected paroxysmal nocturnal hemoglobinuria which was later confirmed by flow cytometry. Conclusion: Having diagnosed her disease, we had to decide on various treatment options like eculizumab, hemopoietic stem cell transplantation which are efficient therapies for PNH. When these modalities are not possible in our case we had to adopt conservative management.

並列關鍵字

Budd–Chiari syndrome ； Eculizumab ； Multiple venous thrombosis ； Paroxysmal nocturnal hemoglobinuria (PNH)

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