Radiology: Volume 254: Number 2—February 2010
Alexis Lacout, MD Jean-Pierre Pelage, MD, PhD Gilles Lesur, MD Thierry Chinef, MD Alain Beauchet, MD Joëlle Roume, MD Pascal Lacombe, MD
Purpose: To evaluate and describe pancreatic involvement by us¬ing 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 arterio¬venous 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 telangi¬ectases 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 during the arterial phase at multidetector CT.