The Budd-Chiari Syndrome as a Complication of Paroxysmal Nocturnal Hemoglobinuria (Clinical Case)

Abstract

Among the main causes of recurrent thrombosis in young patients there is paroxysmal nocturnal hemoglobinuria (PNH), a complication of which is Budd-Chiari syndrome (BCS), characterized by thrombosis of the hepatic veins and/or inferior vena cava. Detection of PNH is an extremely important task, because its untimely diagnosis leads to recurrent thrombosis, deterioration of the patient’s quality of life, and increased mortality from complications which accompany PNH. The article analyzes a clinical case of PNH in a young patient with recurrent BCS, which illustrates the relevance and timely diagnosis of this disease. As a result of unsuccessful pharmacological treatment and progression of liver insufficiency, the patient had liver transplantation. After surgery and standard post-transplantation therapy the patient’s condition improved, but after some time a recurrence of hepatic vein thrombosis was developed. After hematologist consultation and performing flow cytometry, the patient was diagnosed PNH. However, on the background of recurrent hepatic vein thrombosis, immunosuppressive therapy, and the lack of targeted treatment for PNH, multiple organ failure was developed, which led to the patient’s death. PNG is one of the orphan diseases, which is characterized by a severe, chronic, progressive course and accompanied by the formation of degenerative changes in the body, a decrease in the quality and shortening of the patient’s life. Targeted therapy can reduce the risk of thrombosis, red blood cell transfusions and improve the quality of life of patients with PNH.