Pancreatic involvement in hereditary hemorrhagic telangiectasia: assessment with multidetector helical CT

Radiology. 2010 Feb;254(2):479-84. doi: 10.1148/radiol.09090096.

Abstract

Purpose: To evaluate and describe pancreatic involvement by using multidetector computed tomography (CT) in patients with a diagnosis of hereditary hemorrhagic telangiectasia (HHT).

Materials and methods: Institutional review board approval was obtained, and all patients provided informed consent. Across 12 months, all consecutive adult patients with a confirmed diagnosis of HHT referred to our pluridisciplinary HHT center for evaluation were enrolled prospectively in the study and underwent contrast material-enhanced multidetector CT of the abdomen. Pancreatic telangiectases and arteriovenous fistulas were noted, and their characteristics were described. Genetic mutation was also investigated.

Results: Thirty-five patients (19 women, 16 men; mean age, 48.4 years) were included. All patients were asymptomatic. A genetic mutation was identified in 28 (80%) patients, including endoglin in 16 (57%), activin type-II-like receptor kinase 1 (ALK1) in 11 (39%), and SMAD4 in one (4%). Eleven (31%) patients exhibited pancreatic involvement. Fifty-four percent of patients with ALK1 mutation had pancreatic involvement. Twenty-three pancreatic telangiectases were identified during the arterial phase in nine patients. Seven pancreatic arteriovenous malformations (AVMs) were identified in four patients.

Conclusion: Pancreatic involvement commonly is found in patients with HHT (31% in our study), mainly in patients with ALK1 mutation; pancreatic telangiectases or AVMs are only diagnosed duringthe arterial phase at multidetector CT.

MeSH terms

  • Activin Receptors, Type II / genetics
  • Adolescent
  • Adult
  • Aged
  • Arteriovenous Malformations / diagnostic imaging*
  • Contrast Media
  • Female
  • Humans
  • Iohexol
  • Male
  • Middle Aged
  • Mutation
  • Pancreatic Diseases / diagnostic imaging*
  • Prospective Studies
  • Radiographic Image Interpretation, Computer-Assisted
  • Telangiectasia, Hereditary Hemorrhagic / complications*
  • Telangiectasia, Hereditary Hemorrhagic / diagnostic imaging*
  • Telangiectasia, Hereditary Hemorrhagic / genetics
  • Tomography, Spiral Computed / methods*

Substances

  • Contrast Media
  • Iohexol
  • ACVRL1 protein, human
  • Activin Receptors, Type II