Zhao ZH, Qi J, Hu JM, Zhao YY, Liu MQ, Deng L, Zhang F, Gao SS, Li K. Superior mesenteric arteriovenous fistula as a rare manifestation of Cowden syndrome: A case report and review of literature. World J Gastroenterol 2026; 32(45): 122826 [DOI: 10.3748/wjg.122826]
Corresponding Author of This Article
Kun Li, MD, PhD, Chief Physician, Professor, Department of Gastroenterology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, No. 324 Jingwu Weigi Road, Huaiyin District, Jinan 250021, Shandong Province, China. 1483@sdhospital.com.cn
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case-report
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Zhao ZH, Qi J, Hu JM, Zhao YY, Liu MQ, Deng L, Zhang F, Gao SS, Li K. Superior mesenteric arteriovenous fistula as a rare manifestation of Cowden syndrome: A case report and review of literature. World J Gastroenterol 2026; 32(45): 122826 [DOI: 10.3748/wjg.122826]
World J Gastroenterol. Dec 7, 2026; 32(45): 122826 Published online Dec 7, 2026. doi: 10.3748/wjg.122826
Superior mesenteric arteriovenous fistula as a rare manifestation of Cowden syndrome: A case report and review of literature
Zi-Heng Zhao, Jing Qi, Jin-Ming Hu, Ying-Ying Zhao, Ming-Qi Liu, Li Deng, Fan Zhang, Shan-Shan Gao, Kun Li
Zi-Heng Zhao, Jing Qi, Jin-Ming Hu, Ying-Ying Zhao, Ming-Qi Liu, Li Deng, Fan Zhang, Shan-Shan Gao, Department of Gastroenterology, The First Affiliated Hospital of Shandong First Medical University and Shandong Provincial Qianfoshan Hospital, Jinan 250014, Shandong Province, China
Kun Li, Department of Gastroenterology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong Province, China
Co-first authors: Zi-Heng Zhao and Jing Qi.
Co-corresponding authors: Shan-Shan Gao and Kun Li.
Author contributions: Zhao ZH wrote the manuscript and integrated all the data; Qi J collected and verified the clinical data of the in-house case; Hu JM assisted with clinical data collection; Zhao YY analyzed the clinical data; Liu MQ retrieved and curated all literature-reported cases; Deng L and Zhang F conducted the follow-up; Li K supervised the clinical management and follow-up; Gao SS supervised the literature review and performed the final scientific review; all authors have reviewed and approved the final manuscript; Zhao ZH and Qi J contributions in their efforts were equally critical to the conduction of the project and underlie their merit as co-first authors; the collaborative efforts of Li K and Gao S were necessary to completion of the project and its publication, warranting their designation as co-corresponding authors.
AI contribution statement: AI tools (Gemini) were used solely for linguistic refinement and formatting assistance. No AI tool was involved in the generation of research data, interpretation of results, or formulation of conclusions. All AI-generated outputs were critically reviewed and revised by the authors.
Supported by the National Natural Science Foundation of China, No. 82203149 and No. 82000580; the Shandong Medical Association, No. YXH2022ZX02113; and the Shandong Research Hospital Association, No. 2023012.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that there are no conflicts of interest associated with this manuscript.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Kun Li, MD, PhD, Chief Physician, Professor, Department of Gastroenterology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, No. 324 Jingwu Weigi Road, Huaiyin District, Jinan 250021, Shandong Province, China. 1483@sdhospital.com.cn
Received: May 6, 2026 Revised: June 23, 2026 Accepted: July 8, 2026 Published online: December 7, 2026 Processing time: 169 Days and 15.1 Hours
Abstract
BACKGROUND
Cowden syndrome (CS) is a rare autosomal dominant disorder primarily attributed to germline mutations in the PTEN gene, and is characterized by multiple systemic hamartomas and an increased lifetime risk of various malignancies. Despite the broad clinical spectrum of CS, gastrointestinal and hepatic vascular anomalies are infrequent manifestations. Notably, the association between CS and superior mesenteric arteriovenous fistula (SMAVF) remains poorly characterized and has not been previously reported.
CASE SUMMARY
A 50-year-old woman presented with progressive abdominal distension, fatigue, and anorexia for 6 months. Contrast-enhanced magnetic resonance imaging revealed splenomegaly, massive ascites, portal vein dilatation (18 mm), and subtle cirrhosis-like changes, without evidence of alcoholic hepatitis, viral hepatitis, or autoimmune liver disease. Liver function tests were within normal limits and ascitic fluid analysis revealed a transudative pattern. Digital subtraction angiography uncovered extensive SMAVFs. Given that the extensive lesions made surgical resection infeasible and embolization likely to cause bowel necrosis, a transjugular intrahepatic portosystemic shunt (TIPS) procedure was performed as a safer and more viable alternative to achieve symptomatic relief. Liver biopsy showed hepatic fibrosis without cirrhosis, which is compatible with a diagnosis of non-cirrhotic portal hypertension. Hematemesis occurred following TIPS, and endoscopy demonstrated gastric fundic gland polyps. Whole-exome sequencing confirmed CS in light of the patient history regarding multiple tumors and a lower-extremity hemangioma (PTEN mutation: C.80A>G,p.Tyr27Cys).
CONCLUSION
SMAVF is a rare gastrointestinal vascular manifestation associated with CS. Our findings suggest a potential link between PTEN germline mutations and mesenteric vascular anomalies, further broadening the phenotypic spectrum of CS.
Core Tip: We report the first documented case of Cowden syndrome (CS) complicated by a superior mesenteric arteriovenous fistula. A systematic review of the literature identified 13 cases, in addition to the present case, of CS associated with gastrointestinal and hepatic vascular anomalies. These findings suggest that these lesions may be linked to the imbalance of angiogenesis and vascular remodeling induced by PTEN mutations, thereby expanding the known vascular phenotypic spectrum of CS.
