Diagnostic delay of veno-occlusive disease in a myelofibrosis patient with pre-transplant transjugular intrahepatic portosystemic shunt: a case report.

Veno-occlusive disease (VOD), also known as sinusoidal obstruction syndrome (SOS), is a life-threatening complication of allogeneic hematopoietic stem cell transplantation (allo-HSCT) characterized by endothelial injury and post-sinusoidal portal hypertension. Classical diagnostic criteria rely on clinical signs such as ascites, weight gain, and painful hepatomegaly; however, these features may be altered in patients with modified portal hemodynamics. We report the case of a 46-year-old woman with primary myelofibrosis who underwent transplantation after placement of a transjugular intrahepatic portosystemic shunt to manage severe portal hypertension. To our knowledge, this is the first reported case of VOD occurring after transplantation in a patient with a pre-existing transjugular intrahepatic portosystemic shunt, representing a unique diagnostic challenge. Early after transplantation, the patient developed rapidly progressive hyperbilirubinemia without the typical manifestations of VOD, leading initially to an alternative diagnostic hypothesis and delayed initiation of defibrotide therapy. The presence of the shunt likely attenuated hallmark clinical signs by decompressing the portal venous system, thereby masking the syndrome until advanced liver failure occurred. Despite treatment, the patient experienced progressive hepatic dysfunction and died. This case highlights a previously underrecognized diagnostic pitfall: standard diagnostic criteria for VOD may be unreliable in patients with altered portal circulation. Clinicians should maintain a high index of suspicion in this setting and consider early treatment when biochemical abnormalities emerge, as prompt recognition remains critical for improving outcomes.