A Case of Porto-Sinusoidal Vascular Disease

Porto-sinusoidal vascular syndrome is characterised by specific histological changes that do not include cirrhosis, with or without portal hypertension. Patients are usually asymptomatic until development of portal hypertension complications.

A 69-year-old female with history of JAK2 positive essential thrombocythemia (ET) was referred to internal medicine consultation due to elevated liver enzymes. The patient had no previous history of liver disease. Seven months earlier, she had an ischaemic stroke and started treatment with atorvastatin. After discontinuing medication, liver enzymes returned to normal and atorvastatin-related drug-induced liver disease (DILI) was presumed.During a follow-up visit, iron deficiency anaemia was detected and an endoscopic study was performed. It revealed a gastric varix actively bleeding, which was successfully treated with cyanoacrylate.Two months later, the patient was admitted due to a new episode of variceal bleeding, and a portal hypertension complementary study was made.

Although the pathogenesis of porto-sinusoidal vascular disease (PSVD) remains poorly understood, vascular changes within the liver have been associated with several predisposing conditions, such as hypercoagulable states. Patients with ET, especially those with JAK2 mutation, are known to be at increased risk of non-cirrhotic vein thrombosis. Concerning PSVD, the association is not clear but it is believed that both PSVD and myeloproliferative neoplasms share a common denominator: a state characterised by hypercoagulability, inflammation, endothelial dysfunction and, in some cases, portal hypertension.

Portal hypertension without cirrhosis is a rare condition, presenting diagnostic challenges and significant impact on the patient's prognosis.

The suspicion of PSVD should be raised when signs of portal hypertension are present with normal or mildly elevated liver enzymes and normal liver stiffness measurement. A liver biopsy should be performed in this situation.Although the pathogenesis of PSVD is not clearly understood, it is based on the development of vascular changes within the liver and there might be several predisposing conditions such as coagulation disorders.