Paroxysmal nocturnal hemoglobinuria revealed by atypical thromboses: A case of cerebral, hepatic, and portal vein involvement leading to cirrhosis

Abstract

Paroxysmal nocturnal hemoglobinuria is a rare clonal stem cell disorder characterized by ongoing intravascular hemolysis, frequent bone marrow dysfunction, and a markedly elevated risk of thrombosis. Unlike typical thrombotic conditions, Paroxysmal nocturnal hemoglobinuria often causes clots in atypical locations such as the cerebral venous sinuses and intra-abdominal vessels, including the portal, mesenteric, and hepatic veins. These thrombotic events can compromise hepatic outflow and portal circulation, leading to complications such as Budd-Chiari syndrome and progressive liver damage, which may ultimately result in cirrhosis. The coexistence of hemolysis, thrombophilia, and visceral organ dysfunction in Paroxysmal nocturnal hemoglobinuria poses a significant diagnostic and therapeutic challenge. Here, we report the case of a patient in whom combined hepatic and portal vein thrombosis, along with cerebral venous thrombophlebitis, led to the diagnosis of Paroxysmal nocturnal hemoglobinuria, which subsequently progressed to hepatic cirrhosis.