https://pubmed.ncbi.nlm.nih.gov/35258501/
J Pediatr Gastroenterol Nutr. 2022 Mar 8.
doi: 10.1097/MPG.0000000000003445.Online ahead of print.

Porto-Sinusoidal Vascular Disease: A Pediatric Study Of 30 Patients

Chloé Girard 1, Nolwenn Laborde 1, Clothilde Marbach 1, Emmanuel Mas 1 2, Christophe Bureau 3, Pierre Broué 1

Objectives: Porto-sinusoidal vascular disease (PSVD) refers to a broad spectrum of histological lesions and phenotypic expressions. There are only a few reported pediatric cases in the literature. The primary outcomes of this study were to describe the phenotype of children with PSVD, to specify their mode of presentation and their clinical, biological, histological and radiological characteristics, as well as to identify their underlying etiologies.

Methods: This is a descriptive, retrospective and monocentric study of children followed at our reference center for rare vascular liver diseases.
Results: Our study included 30 children aged 2 months to 17.4 years at the time of diagnosis. In most cases, the diagnosis was made incidentally without manifestation of any clinical symptom, but rather on the finding of splenomegaly on physical examination (n = 9) or biological abnormalities (n = 13). In the other cases, the main presenting symptom was an upper gastrointestinal bleeding (n = 6). At the first visit, liver laboratory values were either normal (37%) or slightly disturbed. Anemia and/or thrombocytopenia associated with hypersplenism were found in 60% of patients. Liver biopsy was necessary for diagnosis. A total of 80% of cases had no identified etiology. After a median follow-up of 4.5 years, 33% had not developed portal hypertension and we reported the first pediatric case of hepatocellular carcinoma in PSVD children.

Conclusions: PSVD is responsible for non-specific symptomatology with variable evolution sometimes marked by serious complications requiring invasive treatments or even liver transplantation. Regular monitoring is essential to prevent, detect and treat complications.
Copyright © 2022 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.