特発性門脈圧亢進症

Isolated gastric varices are often treated with retrograde transvenous obliteration through a gastrorenal shunt. However, treatment is challenging when major shunts are absent. We report a rare case of balloon-occluded retrograde transvenous obliteration performed through an intercostal vein. In a 48-year-old man with idiopathic portal hypertension, recurrent isolated gastric varices developed after previous endoscopic and embolization treatments. Imaging indicated the left gastric vein as the inflow vessel and the left 9th intercostal vein as drainage route. Under ultrasound-guided puncture of the intercostal vein, microballoon-occluded retrograde venography was performed, followed by ethanolamine oleate infusion and N-butyl cyanoacrylate embolization. The varix achieved thrombosis without complications. This case highlights the feasibility of intercostal vein access for retrograde transvenous obliteration when conventional routes are unavailable.

OBJECTIVE: To compare signalment, laboratory, and imaging findings in dogs with intrahepatic portal hypertension (PH) secondary to congenital hepatic disorders or chronic hepatitis (idiopathic or copper associated). METHODS: This was a multi-institutional retrospective study (January 1, 2013, to August 25, 2024). Dogs were included if they had clinical evidence of PH (multiple portosystemic shunts, peritoneal effusion, or both) and evidence of liver dysfunction. Dogs were classified as having congenital disease or chronic hepatitis causing PH based on blinded review of liver histopathology. Categorical variables were compared with the Fisher exact test. Continuous variables were compared via the Mann-Whitney U test; variables with P < .2 were included in a multivariable model. RESULTS: 39 dogs met inclusion criteria (16 congenital and 23 chronic hepatitis). Dogs with chronic hepatitis were older and had higher serum bilirubin, ALP, and GGT concentrations; lower serum albumin concentrations; and lower platelet counts compared to dogs with congenital disease. Dogs with congenital hepatic disease had lower MCV. Age and MCV remained significant on multivariable analysis. Hepatic parenchymal heterogeneity on abdominal ultrasound was reported more frequently in dogs with chronic hepatitis. CONCLUSIONS: Liver biopsy remains the gold standard for diagnosing the cause of intrahepatic PH in dogs. However, age, specific clinicopathologic abnormalities, and hepatic ultrasonographic heterogeneity might help clinicians differentiate these conditions when histopathology is unavailable. CLINICAL RELEVANCE: When liver biopsy is unavailable, clinicians evaluating dogs with PH might use age, MCV, albumin, platelet count, cholestatic enzyme activities, and hepatic ultrasonographic echotexture to prioritize congenital versus chronic hepatitis etiologies and guide prognostic counseling.

Pulmonary arterial hypertension (PAH) is a progressive, fatal disease of the pulmonary vasculature characterized by obliterative remodeling of small pulmonary arteries, leading to sustained elevation of pulmonary vascular resistance, right ventricular failure, and premature death. The diagnostic gold standard remains right heart catheterization, requiring a mean pulmonary artery pressure greater than 20 mmHg at rest, a pulmonary arterial wedge pressure of 15 mmHg or below, and a pulmonary vascular resistance exceeding 2 Wood units. PAH is an autosomal dominant disorder with markedly incomplete penetrance of approximately 20-30%, indicating that germline mutations alone are insufficient to cause disease. Disease manifestation requires additional "second hits", including chronic hypoxia, systemic inflammation, hemodynamic stress, hormonal influences, and common genetic modifiers such as single-nucleotide polymorphisms (SNPs). This genetic and environmental complexity underpins the broad clinical heterogeneity observed across PAH subtypes, which include idiopathic PAH, heritable PAH, and disease associated with connective tissue disorders, HIV infection, portal hypertension, congenital heart disease, schistosomiasis, and drug or toxin exposure. This review provides a comprehensive and critical appraisal of the molecular-genetic architecture of PAH. Thirty genes have now been implicated in disease pathogenesis, spanning seven functional categories: receptors of the TGF-β/BMP signaling family (BMPR2, ACVRL1, ENG, BMPR1B); circulating BMP ligands (GDF2, BMP10); transcription factors (TBX4, SOX17, KLF4, FOXF1, SMAD1, SMAD4, SMAD9); membrane and polyamine transporters (ATP13A3, AQP1); potassium channel regulators (KCNA5, KCNK3, ABCC8); metabolic and mitochondrial genes (EIF2AK4, NFU1, GGCX); signaling receptors and structural proteins (NOTCH3, KDR, CAV1, PLEKHH2); vasoactive and extracellular matrix regulators (KLK1, CBLN2, CD248); and epigenetic regulators (TET2, TOPBP1). Among these, BMPR2 is the dominant contributor, accounting for 53-86% of heritable PAH and 14-35% of idiopathic cases. The remaining genes each account for fewer than 5% of cases individually, collectively reflecting a broad landscape of rare and ultra-rare genetic contributions. For each gene, we critically evaluate the strength of genetic evidence, pathogenic mechanisms, degree of mechanistic resolution, and clinical relevance. We further discuss the contribution of emerging technologies, including whole-genome sequencing, single-cell and spatial transcriptomics, multi-omics integration, iPSC-derived vascular models, and artificial intelligence, to expanding the PAH genetic architecture beyond single-gene discovery. A key theme across this landscape is convergence: despite mechanistic diversity at the gene level, most PAH-associated variants ultimately impair endothelial quiescence, promote smooth muscle proliferation, and drive apoptosis resistance through disruption of BMP signaling amplitude, transcriptional stability, ion channel homeostasis, metabolic integrity, or epigenetic regulation. This convergence supports both a unified therapeutic rationale and a precision medicine framework for genotype-stratified intervention in PAH.

Porto-sinusoidal vascular disease (PSVD) is an uncommon disorder characterized by hepatic microvascular alterations and noncirrhotic portal hypertension. Its recent redefinition includes patients with and without portal hypertension, even in the presence of concomitant liver disease. The present study aimed to correlate the clinical, radiologic, and histopathologic findings in Mexican patients with PSVD and identify key diagnostic challenges. A retrospective study was conducted on ten patients diagnosed with PSVD according to updated criteria, in whom liver biopsy showed no cirrhosis. Clinical, laboratory, imaging, and histopathologic data were collected. Upper gastrointestinal bleeding was the most frequent initial presentation, followed by mild thrombocytopenia. Biopsies revealed obliterative portal venopathy, nodular regenerative hyperplasia, and incomplete septal fibrosis. Magnetic resonance imaging identified periportal hyperintensity, which aided in differentiating PSVD from cirrhosis. The findings confirm PSVD heterogeneity, underscoring the importance of integrating different diagnostic tools for its timely detection.

BACKGROUND: While partial splenic artery embolization (PSE) has been effectively employed in treating portal hypertension, cirrhosis, and idiopathic thrombocytopenia, its combination with hepatic artery infusion chemotherapy (HAIC) for the management of chemotherapy-induced hypersplenism (CIH) has not been previously explored. This retrospective study aims to provide clinical insights into this potential therapeutic approach. MATERIALS AND METHODS: We conducted a retrospective analysis involving patients with colorectal cancer liver metastases (CRLM) who received PSE in conjunction with HAIC (utilizing the FOLFOX regimen) to manage thrombocytopenia due to hypersplenism. Tumor response assessment followed the response evaluation criteria in solid tumors, while adverse reactions were categorized using the Common Terminology Criteria for Adverse Events (version 5.0). The primary objective was to attain a platelet (PLT) count of 100 × 10 9 /L, with secondary objectives encompassing evaluation of adverse events related to the combined therapy and its efficacy against liver metastases. RESULTS: From January 2018 to May 2023, 20 patients with CRLM and CIH were consecutively enrolled in this investigation, each undergoing PSE and HAIC. In total, PSE was performed 25 times. Median pre- and post-PSE PLT counts were 51 × 10 9 /L and 116 × 10 9 /L, respectively, with 80% of participants reaching the primary endpoint of a PLT count of ≥100 × 10 9 /L. Abdominal pain emerged as the most frequent postoperative complication, affecting 11 patients (44%). The objective response rate stood at 25%, while the disease-control rate was reported at 80%. The median progression-free survival was measured at 3.9 months, with a median overall survival of 13.8 months. CONCLUSION: The combination of PSE and HAIC (FOLFOX regimen) represents a safe and effective strategy for managing CIH and CRLM, demonstrating favorable outcomes in PLT count restoration and disease control.