Diagnostic imaging in the study of visceral involvement of hereditary haemorrhagic telangiectasia

摘要: Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal-dominant vascular disease characterised by mucocutaneous or visceral angiodysplastic lesions. Its diagnosis exclusively based on clinical criteria. The brain, lungs and liver, in growing order of prevalence, are the most frequently involved organs. Diagnostic imaging ultrasound (US), computed tomography (CT), magnetic resonance (MRI) digital subtraction angiography (DSA) has a fundamental role detecting involvement HHT patients therefore crucial for prognostic assessment therapeutic approach. Arteriovenous shunts common cerebrovascular malformations (CVMs). MRI CT methods choice diagnosing cerebral involvement, it debated whether could be considered screening examination account its noninvasiveness. Pulmonary arteriovenous malformations, diffuse telangiectases high-flow, low-pressure between pulmonary arteries veins can studied with contrast-enhanced US, but multidetector seems to provide comprehensive evaluation their angioarchitecture, whereas predominant treatment. Liver frequent presence intrahepatic shunts, disseminated intraparenchymal other US useful hepatic lesions should completed more accurate such MRI.