Rendu-Osler-Weber syndrome: what radiologists should know. Literature review and three cases report

Abstract

Rendu-Osler-Weber syndrome or hereditary hemorrhagic telangiectasia is an autosomal dominant vascular disease involving multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Most common symptoms include skin and mucosal telangiectasias, epistaxis, gastrointestinal, pulmonary and intracerebral bleeding. The key imaging finding is the presence of visceral arteriovenous malformations. The diagnosis is based on clinical criteria and can be confirmed by molecular biology techniques. Treatment includes measures for management of epistaxis, as well as surgical excision, radiotherapy and embolization of arteriovenous malformations, with emphasis on endovascular treatment. The present pictorial essay includes a report of three typical cases of this entity and a literature review.

Abdominal vascular syndromes: characteristic imaging findings

“…Other findings include an increase in the caliber of the hepatic artery (> 1.0 cm) and telangiectasia, which is characterized by small hypervascular subcapsular nodules, less than 1.0 cm in diameter ( Figure 6 ). It is noteworthy that the prevalence of focal nodular hyperplasia is 100 times higher in these patients with hereditary hemorrhagic telangiectasia than in the general population, information that can limit the number of unnecessary liver biopsies ( 16 , 17 ) .…”

“…Such involvement manifests as large vascular bundles resulting from arteriovenous, arterioportal, or portovenous shunts ( Figure 5 ). Those shunts can result in major clinical complications such as portal hypertension, ascites, hepatic encephalopathy, heart failure, and biliary necrosis ( 16 , 17 ) . Other findings include an increase in the caliber of the hepatic artery (> 1.0 cm) and telangiectasia, which is characterized by small hypervascular subcapsular nodules, less than 1.0 cm in diameter ( Figure 6 ).…”

Karaciğerin Vasküler Hastalıkları

“…Anjiodisplazik lezyonlarla karakterize sendrom kapiller yatakta interpozisyon olmaksızın arterlerle venler arasında kominikasyona neden olmaktadır (7 Toplumda nadir görülen bu sendromun görül-me sıklığı 10-20/100.000 olup sıklıkla hemoptizi ve burun kanaması ile semptom vermektedir. Olguların %74'ünde karaciğer tutulumu bildirilmiştir.…”

“…Yine şantlara bağ-lı olarak portal ven ve hepatk ven dalları erken doluş göstermektedir. Vasküler şantlara bağlı dıştan bası ile ilişkili olarak fokal safra kanallarında dilatasyon gözlenir (1,7,8). Olguların %65'inde karaciğerde mozaik patern kontrastlanma, %63'ünde telenjiektaziler ve %25'inde konfluent vasküler kitleler görülür (Resim 11, 12).…”

Radiological findings in the liver of a patient with Rendu-Osler-Weber syndrome

“…It is a rare systemic fibrovascular dysplasia that makes the walls of blood vessels more vulnerable to trauma and spontaneous ruptures ( 7 ) . It affects multiple organs and systems, being characterized mainly by the presence of telangiectasias or vascular shunts in the liver, lungs, kidneys, central nervous system, or skin ( 8 , 9 ) . In adults, it typically manifests as recurrent epistaxis, mucocutaneous telangiectasias, digestive tract hemorrhage, and hemoptysis ( 9 , 10 ) .…”