Complex Management of High-Flow Gastrointestinal Arteriovenous Malformation With Chronic Portomesenteric Thrombosis in PTEN Hamartoma Tumor Syndrome - Case Report

Sep 29, 2026

Uploaded by dhado

Life-threatening gastrointestinal bleeding occurred in a 19-year-old woman due to a high-flow terminal ileal arteriovenous malformation (AVM), further complicated by chronic portomesenteric thrombosis. Sequential targeted embolizations were performed, followed by anticoagulation and venous stenting to attempt portomesenteric recanalization and reduce AVM pressure. Ultimately, right hemicolectomy with portal recanalization was required. Genetic testing confirmed PTEN hamartoma tumor syndrome (PHTS), suggesting a link between PHTS and visceral vascular anomalies, while emphasizing multidisciplinary individualized management and expert consultation for rare vascular presentations.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages6

Reading Time15 min

AccessFree to download

Case Report

Presentation and Diagnosis

Initial Endovascular Management and Anticoagulation

Recurrent Bleeding and Complications

Surgical and Multidisciplinary Treatment

ACG CASE REPORTS JOURNAL CASE REPORT | SMALL BOWEL Complex Management of High-Flow Gastrointestinal Arteriovenous Malformation With Chronic Portomesenteric Thrombosis in PTEN Hamartoma Tumor Syndrome Katrien De Looze, MD 1 , *, Kymentie Ferdinande, MD 1 , *, Laurence Levrau, MD 1 , *, Uri Singfer, MD2 , Luis De Carvalho, MD, PhD3 , Anna Vantilborgh, MD, PhD4 , Margot Callens, MD5 , Aude Beyens, MD5 , Anne Hoorens, MD, PhD6 , Anja Geerts, MD, PhD 1 , Xavier Verhelst, MD, PhD 1 , Sarah Raevens, MD, PhD 1 , and Hans Van Vlierberghe, MD, PhD 1 1 Department of Gastroenterology and Hepatology, Ghent University Hospital, Ghent, Belgium 2Department of Interventional Radiology, Ghent University Hospital, Ghent, Belgium 3Department of Hepatobiliary Surgery, Ghent University Hospital, Ghent, Belgium 4 Department of Hematology, Ghent University Hospital, Ghent, Belgium 5Department for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium 6Department of Pathology, Ghent University Hospital, Ghent, Belgium ABSTRACT We present a rare case of life-threatening gastrointestinal bleeding from a high-ﬂow terminal ileal arteriovenous malformation (AVM) in a 19-year-old woman, complicated by chronic portomesenteric thrombosis. Management included sequential targeted embolizations, anticoagulation and venous stentingin attempt torecanalize the portomesenteric vasculatureto lower the pressure in the AVM, and, ultimately, right hemicolectomy with portal recanalization. Genetic analysis conﬁrmed phosphatase and tensin homolog(PTEN)hamartoma tumor syndrome, suggesting a potential linkbetween PTENhamartoma tumor syndrome andvisceral vascular anomalies. This case underscores the challenges of treating complex AVMs in the setting of thrombosis and highlights the importance of multidisciplinary, individualized management, with international expert consultation essential in rare vascular presentations. KEYWORDS: gastrointestinal bleeding; PTEN hamartoma tumor syndrome; arteriovenous malformation; portomesenteric thrombosis ABBREVIATIONS: AVM, arteriovenous malformation; CT, computed tomography; DM2, Mouse Double Minute 2; DSA, digital subtraction angiography; JAK/STAT, Janus Kinase / Signal Transducer and Activator of Transcription; PHTS, PTEN hamartoma tumor syndrome; PI3K/ AKT/mTOR, Phospholnositide 3-Kinase / Protein Kinase B / mechanistic of mammalianTarget of RapamycinM; PTEN, Phosphatase and TENsin homolog; PVT, portal vein thrombosis; SMV, superior mesenteric vein INTRODUCTION Arteriovenous malformations (AVMs) of the gastrointestinal tract represent a small fraction of AVMs overall. While AVMs can occur in various organ systems, they are most frequently identiﬁed in the central nervous system, skin, and extremities.1 Although relatively rare, gastrointestinal AVMs are clinically relevant because they may cause recurrent or severe gastrointestinal bleeding.2–5 PTEN hamartoma tumor syndrome (PHTS) is a rare genetic disorder that may predispose to visceral vascular anomalies, though such cases are uncommon.1,6–8 We report a case of a 19-year-old woman presenting with life-threatening gastrointestinal bleeding from a high-ﬂow AVM of the terminal ileum, complicated by chronic portomesenteric thrombosis. ACG Case Rep J 2026;13:e01942 . doi:10 . 14309/crj.0000000000001942. Published online: January 5, 2026 Correspondence: Hans Van Vlierberghe, MD, PhD (hans.vanvlierberghe@uzgent. be) . ACG Case Reports [Journal / Volume 13 acgcasereports.com 1](Journal / Volume 13 acgcasereports.com 1) De Looze et al High-Flow Gastrointestinal AVM CASE REPORT A 19-year-old woman with no signiﬁcant medical history presented with severe lower gastrointestinal bleeding, characterized by massive hematochezia and hemodynamic instability. Laboratory tests revealed acute anemia (hemoglobin 7.1 g/ dL5,7–15) with no other outliers in laboratory results. An urgent computed tomography (CT) angiography revealed intestinal intraluminal blood w

FAQs

What condition caused the life-threatening bleeding in this case?

The bleeding originated from a high-flow terminal ileal arteriovenous malformation (AVM) complicated by chronic portomesenteric thrombosis.

What treatments were used before definitive surgery?

Management included sequential targeted embolizations, anticoagulation, and venous stenting attempts for portomesenteric recanalization to lower AVM pressure.

How was the underlying genetic diagnosis established?

Genetic analysis confirmed phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS), indicating a potential association with visceral vascular anomalies.

Sep 29, 2026

Uploaded by dhado