Porto-Sinusoidal Vascular Disease and Downhill Varices: Separate Clinical Entities?

Porto-sinusoidal vascular disease (PSVD) is an entity characterized by the absence of histologic liver cirrhosis and the detection of specific or non-specific histological findings, irrespective of the presence of portal hypertension (PHT). The pathogenesis remains poorly understood. Pulmonary arterial hypertension (PAH), independently of the presence of PHT, can be associated with an increase in central venous pressure, which can rarely lead to the development of downhill varices in the proximal esophagus.

A 53-year-old woman, with an unremarkable medical and pharmacological history, presented with a 3-day history of melena, epigastric pain and hematemesis. Physical examination revealed bilateral peripheral edema of the legs. Laboratory findings included severe anemia, normal hepatic enzymology, and NT-proBNP 1,748 pg/mL. Endoscopy showed large proximal esophageal varices and mild hypertensive gastropathy. A complete liver disease etiology panel was negative. Ultrasound showed an irregular liver surface, splenomegaly, and dilated supra-hepatic veins and inferior vena cava. Echocardiogram revealed significant cardiac valve and cavity abnormalities, especially on the right side, as well as moderate to severe PAH. Diuretics therapy was started with clinical improvement. Beta-blockers were suspended due to intolerance. There were no images suggestive of portosystemic collateralization on angiography. Re-evaluation endoscopy showed large but reduced esophageal varices, without red spots. Cardiopulmonary hemodynamic assessment revealed moderate PAH (40 mm Hg). Liver hemodynamic study revealed non-clinically significant sinusoidal PHT. Transjugular liver biopsy revealed nodular regenerative hyperplasia suggestive of PSVD.

The case was complex and presented diagnostic challenges, illustrating the uncommonly reported association between PSVD and porto-pulmonary hypertension and the importance of the transjugular liver biopsy and pressure measurements to confirm both diagnoses.