Diagnostic Yield of Liver Biopsy in Porto-Sinusoidal Vascular Disorder: Are Conventional Adequacy Criteria Always Indispensable?

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BACKGROUND AND AIMS: Porto-sinusoidal vascular disorder (PSVD) is a rare vascular liver disease defined by the absence of cirrhosis on a liver biopsy together with specific histological lesions and/or characteristic signs of portal hypertension. Although current recommendations define an adequate biopsy as a specimen of at least 20 mm in cumulative length, containing at least 10 portal tracts, and showing minimal fragmentation, the real-world diagnostic yield of biopsies that fail to meet all these criteria remains insufficiently explored. We aimed to evaluate the contribution of liver biopsy to PSVD diagnosis and to determine whether strict fulfillment of conventional adequacy criteria is indispensable for detecting diagnostic histological lesions. METHODS: We conducted a retrospective, descriptive, and analytical study over a nine-year period (2017-2026) in a tertiary care hepatogastroenterology department. All consecutive patients diagnosed with PSVD who underwent liver biopsy were included. Clinical, endoscopic, radiological, etiological, therapeutic, and histological data were collected and analyzed. Patients diagnosed on histological criteria were compared with those diagnosed on portal hypertension criteria alone. Factors associated with positive histology were evaluated using univariate and multivariate logistic regression analyses. RESULTS: Forty-three patients were included (mean age 42.4±12.6 years; male-to-female ratio, 0.79). The most common clinical presentations were anemic syndrome, 17 (39.5%); abdominal pain, 14 (32.6%); and hemorrhagic presentation, 12 (27.9%). Upper endoscopy demonstrated esophageal varices in 31 (72.1%) patients, gastroesophageal varices in eight (18.6%), and portal hypertensive gastropathy in nine (20.9%). Portal vein thrombosis was documented in 11 (25.6%) patients and portal cavernoma in four (9.3%). Protein C and/or S deficiency was the most frequent associated condition, occurring in 14 (32.6%) patients. Histological criteria supported the diagnosis in 26 (60.5%) patients, including 17 (39.5%) with at least one specific histological lesion. Only two biopsies (4.7%) fulfilled all conventional adequacy criteria. Nevertheless, diagnostic histological lesions were identified in a substantial proportion of biopsies that did not meet all criteria. In both univariate and multivariate analyses, cumulative biopsy length, number of portal tracts, and number of cores were not independently associated with positive histology. CONCLUSION: Liver biopsy remained a cornerstone of PSVD diagnosis in this cohort. However, diagnostic histological lesions were frequently identified in biopsies not meeting all conventional adequacy criteria, and biopsy-related quantitative parameters were not predictive of diagnostic yield. These findings suggest that diagnostic histological information may still be obtained from suboptimal biopsy specimens. No association was detected in this cohort between the assessed biopsy adequacy parameters and positive histology, but these results should be interpreted cautiously in light of the study design and sample size. Larger multicenter studies are warranted to establish evidence-based adequacy thresholds specific to PSVD.

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