Imaging to intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a disorder that affects 1 in 5000–10,000 people worldwide and can result in devastating complications such as cerebral abscess, stroke, massive hemorrhage, and even death. HHT is an autosomal dominant disorder that leads to the formation of abnormal communication between the arteries and veins with a resultant spectrum of vascular anomalies. The disorder affects many organ systems and thus requires a dedicated multidisciplinary approach. Interventional radiologists are vital members of this team providing expertise not only in disease management, but in complex embolotherapy, helping to maintain the health of these patients. This article reviews clinical manifestations, screening guidelines, diagnostic criteria, and endovascular management of HHT.

Rendú Osler Weber Syndrome; case report

“…For its diagnosis, one should take into account the physical examination, as well as the clinical evaluation, pain, and a history of hemorrhages [5] , [6] , [7] . However, for a precise diagnosis, the use of images is necessary, such as angiotomography and angiography, to show the feeding vessels, the nest, and drainage veins, which is essential for embolization and adequate surgical incision or combined treatment [ 1 , 2 , 8 , 9 ]. In this case, angiotomography, as well as diagnostic angiogram, revealed and supported embolization.…”

“…In regards to treatment, endovascular therapy guided by images, such as sclerotherapy, embolization, and surgical resection, are recommended as the best option, according to the kind of patient [9] , [10] , [11] , [12] . In our patient, there was epistaxis and recurrent vaginal bleeding, for which she was sent to the hospital center, where she was diagnosed with Rendu-Osler-Weber syndrome.…”

“…Sclerotherapy has the function of reducing the size of the venous nest; embolization was performed before surgical resection to facilitate the procedure with minimum risk of bleeding [ 8 , 11 ], although it also has been used as a permanent treatment [8] , [9] , [10] . Finally, surgery is the definitive recommended treatment [11] ; however, it presents some complications, since the malformations tend to be extensive and poorly defined [1] .…”

“…Finally, surgery is the definitive recommended treatment [11] ; however, it presents some complications, since the malformations tend to be extensive and poorly defined [1] . There is a risk of acute hemorrhage, and mismanagement of the procedure has grave consequences, including death [ 8 , 9 , 11 ].…”

“…The diagnostic angiograph is of great importance in the correct characterization and determination of intervention treatments [8] . A multidisciplinary focus is a vital consideration for the correct early diagnosis and treatment; and treatment is recommended to be in centers with ample experience in management of this kind of case [ 8 , 9 ]. Intervention radiologists are essential in the treatment of this kind of alteration, due to their broad experience, not only in management, but also in complex embolization, which helps to improve the prognosis and quality of life for this kind of patient [10] , [11] , [12] .…”