Imaging of hereditary hemorrhagic telangiectasia.
This pictorial review is based on our experience of the follow-up of 120 patients at our multidisciplinary center for hereditary hemorrhagic telangiectasia (HHT). Rendu-Osler-Weber disease or HHT is a multiorgan autosomal dominant disorder with high penetrance, characterized by epistaxis, mucocutaneous telangiectasis, and visceral arteriovenous malformations (AVMs). The research on gene mutations is fundamental and family screening by clinical examination, chest X-ray, research of pulmonary shunting, and abdominal color Doppler sonography is absolutely necessary. The angioarchitecture of pulmonary AVMs can be studied by unenhanced multidetector computed tomography; however, all other explorations of liver, digestive bowels, or brain require administration of contrast media. Magnetic resonance angiography is helpful for central nervous system screening, in particular for the spinal cord, but also for pulmonary, hepatic, and pelvic AVMs. Knowledge of the multiorgan involvement of HHT, mechanism of complications, and radiologic findings is fundamental for the correct management of these patients.
Carette
Marie-France
MF
Radiology Department, AP-HP Tenon Hospital, 4 Rue de la Chine, 75020, Paris, France. marie-france.carette@tnn.aphp.fr
Nedelcu
Cosmina
C
Tassart
Marc
M
Grange
Jean-Didier
JD
Wislez
Marie
M
Khalil
Antoine
A
D003952:Diagnostic Imaging; D006801:Humans; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000235:genetics*