Diagnostic challenges in non-cirrhotic portal hypertension - porto sinusoidal vascular disease

Abstract

Non-cirrhotic portal hypertension consists of a group of diseases characterized by signs and complications of portal hypertension, which differ from cirrhosis through histological alterations, hemodynamic characterization and, clinical outcome. Because of the similarities in clinical presentation and imaging signs, frequently these patients, and particularly those with porto-sinusoidal vascular disease (PSVD), are misdiagnosed as having liver cirrhosis and thus raising difficulties in their diagnosis. The most challenging differentiation to be considered is between PSVD and cirrhosis and, although not pathognomonic, liver biopsy is still the standard of diagnosis. Although they still require extended validation before being broadly used, new non-invasive methods for the diagnosis of porto-sinusoidal vascular disease, like transient elastography, contrast-enhanced ultrasound or metabolomic profiling, have shown promising results. Another issue is the differentiation between PSVD and chronic extrahepatic portal vein obstruction, especially now when it is known that 40% of patients suffering from PSVD develop portal vein thrombosis. In this particular case, once the portal vein thrombosis occurred, the diagnosis of PSVD is impossible according to the current guidelines. Moreover, so far, the differentiation between PSVD and sinusoidal obstruction syndrome has not been clear so far in particular circumstances. In this review we highlighted the diagnostic challenges regarding the PSVD, as well as the current techniques used in the evaluation of these patients.

Keywords: Porto-sinusoidal vascular disease; Extrahepatic portal vein obstruction; Non-cirrhotic portal hypertension; Non-invasive diagnosis; Idiopathic portal hypertension; Cirrhosis

Core tip: Non-cirrhotic portal hypertension consists of a group of diseases characterized by signs and complications of portal hypertension. However, their diagnosis is sometimes difficult due to their similarities in clinical presentation, imaging signs and histological modifications despite advances in their understanding. Moreover, these disorders are sometimes misdiagnosed as cirrhosis. This review highlights their diagnostic challenges, especially with regard to porto sinusoidal vascular disease, extrahepatic portal vein obstruction, sinusoidal obstruction syndrome and cirrhosis and discusses the current available diagnostic tools.