Paediatric porto-sinusoidal vascular disease: Two different clinical phenotypes with subtle histological differences

Area of Science:

• Pediatric Gastroenterology
• Hepatology
• Vascular Biology

Background:

• Porto-sinusoidal vascular disease (PSVD) is an underdiagnosed condition in pediatric medicine.
• Understanding its clinical presentations, histological features, and outcomes in children is crucial.

Purpose of the Study:

• To delineate the clinical phenotypes of pediatric PSVD.
• To analyze the histological characteristics associated with different PSVD presentations.
• To evaluate the medium-term outcomes of children diagnosed with PSVD.

Main Methods:

• A retrospective multicenter study involving 62 children diagnosed with PSVD.
• Histopathology reports were reviewed by expert liver pathologists for accurate diagnosis.
• Patients were categorized into groups based on the presence or absence of portal hypertension.

Main Results:

• Two distinct phenotypes were identified: 58% with non-cirrhotic portal hypertension (PH-PSVD) and 42% with elevated transaminases without PH (noPH-PSVD).
• Obliterative portal venopathy was more prevalent in the PH-PSVD group, while hypervascularised portal tracts were more common in the noPH-PSVD group.
• In the PH-PSVD group, 8% required TIPS, 14% developed pulmonary vascular complications, and 19% needed liver transplantation; the noPH-PSVD group showed no progression or complications.

Conclusions:

• Pediatric PSVD manifests as two distinct clinical phenotypes: one with portal hypertension and another with isolated hypertransaminasemia.
• Histological differences between these phenotypes are subtle.
• Children with PSVD and portal hypertension face a risk of disease progression and complications, whereas those without portal hypertension have a favorable medium-term outcome.