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Objective <p>To analyze abdominal manifestations in hereditary hemorrhagic telangiectasia (HHT).</p> Methods <p>This retrospective study included 7 patients who were definitively diagnosed with HHT via the Curaçao criteria and underwent contrast-enhanced abdominal CT or MRI at our hospital from January 2016 to January 2024. We reviewed the literature and included patients with HHT who had abdominal CT and/or MRI data.</p> Results <p>A total of 7 patients were included in the study, 5 males and 2 females, ranging in age from 1&#xa0;month to 79&#xa0;years. All patients had at least 2 organs involved. Abdominal manifestations included liver involvement (telangiectasias, hepatic artery-hepatic vein fistula, hepatic artery-portal vein fistula, portal vein-hepatic vein fistula, or diffuse hyperplastic nodules) in 6 cases, splenic involvement (splenomegaly, dilated splenic capillaries, or aneurysm) in 4 cases, gastrointestinal involvement (collateral circulation establishment) in 5 cases, pancreatic involvement (increased and thickened pancreaticoduodenal artery) in 4 cases, and renal and perirenal involvement (no corticomedullary demarcation in the arterial phase, perinephric aneurysm) in 2 cases. Additionally, 139 cases of HHT with abdominal involvement were identified in the literature.</p> Conclusions <p>Vascular fistula, aneurysm, capillary dilatation and the establishment of collateral circulation in abdominal organs are characteristic manifestations of HHT. MRI’s ability to visualize focal nodular hyperplasia-like nodules in the hepatobiliary phase and multiple arterial phases, together with CT-Angiography’s capacity to detect arteriovenous malformations across multiple organs, underscores the complementary strengths of these imaging modalities in the diagnosis of HHT.</p>

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Abdominal imaging findings of hereditary hemorrhagic telangiectasia: a case series of seven patients and literature review

  • 期刊论文

  • 发表日期：

    2025年10月1日

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  • Jiawei Liu,
  • Jian Ling,
  • Fen Yu,
  • Lujie Li,
  • Yuxin Wu,
  • Qiaochu Zhao,
  • Chenyu Song,
  • Zhi Dong,
  • Jifei Wang,
  • Mimi Tang,
  • Meicheng Chen,
  • Siya Shi,
  • Yanji Luo,
  • Danyang Xu

摘要

Objective

To analyze abdominal manifestations in hereditary hemorrhagic telangiectasia (HHT).

Methods

This retrospective study included 7 patients who were definitively diagnosed with HHT via the Curaçao criteria and underwent contrast-enhanced abdominal CT or MRI at our hospital from January 2016 to January 2024. We reviewed the literature and included patients with HHT who had abdominal CT and/or MRI data.

Results

A total of 7 patients were included in the study, 5 males and 2 females, ranging in age from 1 month to 79 years. All patients had at least 2 organs involved. Abdominal manifestations included liver involvement (telangiectasias, hepatic artery-hepatic vein fistula, hepatic artery-portal vein fistula, portal vein-hepatic vein fistula, or diffuse hyperplastic nodules) in 6 cases, splenic involvement (splenomegaly, dilated splenic capillaries, or aneurysm) in 4 cases, gastrointestinal involvement (collateral circulation establishment) in 5 cases, pancreatic involvement (increased and thickened pancreaticoduodenal artery) in 4 cases, and renal and perirenal involvement (no corticomedullary demarcation in the arterial phase, perinephric aneurysm) in 2 cases. Additionally, 139 cases of HHT with abdominal involvement were identified in the literature.

Conclusions

Vascular fistula, aneurysm, capillary dilatation and the establishment of collateral circulation in abdominal organs are characteristic manifestations of HHT. MRI’s ability to visualize focal nodular hyperplasia-like nodules in the hepatobiliary phase and multiple arterial phases, together with CT-Angiography’s capacity to detect arteriovenous malformations across multiple organs, underscores the complementary strengths of these imaging modalities in the diagnosis of HHT.