CASE 9694 Published on 17.11.2011

Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): abdominal MR findings

Section

Abdominal imaging

Case Type

Clinical Cases

Authors

Campos JT, Rocha DM, Ramos R, Pinto D, Guimaraes LS

S.João;
Rua do Fincão 294 4900-035
V. Castelo, Portugal;
Email:jtraila@hotmail.com
Patient

20 years, male

Categories
Area of Interest Abdomen ; Imaging Technique MR
Clinical History
Male patient, 20 years, with recurrent epistaxis.
Previous US demonstrates an enlarged heterogeneous liver, with proeminent hepatic artery and dilated portal and hepatic veins.
Imaging Findings
The abdominal MR shows, in the arterial phase, heterogeneous liver enhancement, with a mosaic pattern of perfusion, with telangiectasias and confluent vascular masses. We also demonstrate prominent extrahepatic arterial branches with a dilated hepatic portal vein.
It is also possible to access to small pancreatic telangiectasias.
Discussion
Background and Clinical Perspective
Hereditary haemorrhagic telangiectasia is an autosomal dominant multiorgan disorder caused by a genetic defect encoding a protein that binds transforming growth factor, which results in abnormal vascular remodelling in the form of fibrovascular dysplasia with multiple telangiectasias (thin-walled, dilated vascular channels) accompanied by arteriovenous malformations. [1]
The prevalence of hereditary haemorrhagic telangiectasia is 10–20 per 100,000 people in the general population.

Patients with hepatic involvement have hyperdynamic circulation resulting from arteriovenous shunting, portovenous shunting, or both, and may develop high-output cardiac failure. Other complications include extrahepatic shunts, portal hypertension, hepatic portosystemic encephalopathy, biliary ischaemia, cholangitis, and liver failure. Extrahepatic involvement may manifest with haemoptysis, haemothorax, cerebrovascular accident, or cerebral abscess. Most patients experience repeated episodes of epistaxis from nasal mucosal telangiectasias, which bleed spontaneously. [1, 2]

Imaging perspective
Contrast-enhanced CT demonstrates prominent extrahepatic and intrahepatic arterial branches with dilated hepatic and portal veins with vascular shunts. The arterial phase is characterised by dilated and tortuous intrahepatic and extrahepatic arterial branches (mesenteric vessels); early filling of portal or hepatic venous trunks, indicating arterioportal or arteriovenous shunting; and possible focal bile duct dilatation due to external compression by vascular masses. In the arterial phase, liver enhancement is heterogeneous, with a mosaic pattern of perfusion characterised by multiple areas of transient hepatic attenuation difference indicative of arterioportal shunt (65% of cases), telangiectasias (63% of cases), and confluent vascular masses (25% of cases). [3, 4] Telangiectasias appear as small peripheral subcentimeter perfusion abnormalities in the arterial phase that are more readily recognisable on reconstructed multiplanar and maximum intensity projection images, which allow increased conspicuity of small hypervascular lesions adjacent to vessels. Confluent vascular masses appear as larger vascular pools with early and persistent enhancement during the arterial phase. Chest images may show cardiomegaly and prominent central pulmonary arteries; pulmonary arteriovenous malformations also may be detected.

Outcome
The prognosis is usually good with supportive treatment with iron supplements and blood transfusion. Patients rarely require hepatic arterial coil embolisation, surgical ligation of the hepatic artery, or, more rarely, liver transplantation.
Differential Diagnosis List
Osler-Weber-Rendu syndrome
Chronic hepatitis
Inherited metabolic liver disease
Final Diagnosis
Osler-Weber-Rendu syndrome
Case information
URL: https://www.eurorad.org/case/9694
DOI: 10.1594/EURORAD/CASE.9694
ISSN: 1563-4086