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


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.


CONCLUSIONS
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.
Lacout
Alexis
A
Department of Radiology, Pluridisciplinary HHT Center, Hôpital Ambroise Paré, Assistance Publique-Hôpitaux de Paris, Université Paris Ile-de-France Ouest, 9, avenue Charles de Gaulle, 92104 Boulogne CEDEX, France.
Pelage
Jean-Pierre
JP
Lesur
Gilles
G
Chinet
Thierry
T
Beauchet
Alain
A
Roume
Joëlle
J
Lacombe
Pascal
P
D030301:Activin Receptors, Type II / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D001165:Arteriovenous Malformations / Q000000981:diagnostic imaging*; D003287:Contrast Media; D005260:Female; D006801:Humans; D007472:Iohexol; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010182:Pancreatic Diseases / Q000000981:diagnostic imaging*; D011446:Prospective Studies; D011857:Radiographic Image Interpretation, Computer-Assisted; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications* / Q000000981:diagnostic imaging* / Q000235:genetics; D036542:Tomography, Spiral Computed / Q000379:methods*
D003287:Contrast Media; D007472:Iohexol; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II