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

La diagnostica per immagini nello studio delle manifestazioni viscerali della telangiectasia emorragica ereditaria

  • Vascular and Interventional Radiology/Radiologia Vascolare ed Interventistica
  • Published:
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Abstract

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

Riassunto

La telangiectasia emorragica ereditaria (HHT), o malattia di Rendu-Osler-Weber, è un disordine vascolare ereditario, caratterizzato dalla comparsa di lesioni angiodisplasiche mucocutanee e viscerali, la cui diagnosi si basa esclusivamente su criteri clinici. L’encefalo, i polmoni ed il fegato sono, in ordine crescente di prevalenza, le sedi viscerali più frequentemente coinvolte. La diagnostica per immagini, mediante gli ultrasuoni (US), la tomografia computerizzata (TC), la risonanza magnetica (RM) e la angiografia (DSA), ha un ruolo cruciale nella diagnosi del coinvolgimento viscerale nei pazienti affetti da HHT ed è, pertanto, fondamentale nella valutazione prognostica e nella impostazione terapeutica. Tra le malformazioni vascolari cerebrali gli shunt arterovenosi costituiscono l’alterazione più frequente. La RM e la angio-TC sono le metodiche di scelta nella diagnosi dell’interessamento cerebrale, ed è dibattuto se, per la scarsa invasività, la RM sia da proporre come metodica di screening. Le malformazioni arterovenose polmonari, telangiectasie diffuse o fistole tra arterie e vene polmonari, possono essere ricercate con US con MdC, ma la TC multidetettore appare l’indagine più completa per la valutazione della loro angioarchitettura mentre l’angiografia mantiene un ruolo prevalentemente terapeutico. L’interessamento epatico è frequente e caratterizzato dalla comparsa di fistole arterovenose, telangiectasie intraparenchimali ed altre alterazioni vascolari. Gli US sono utili nella ricerca delle lesioni epatiche, ma devono essere integrati da indagini più accurate quali la TC multidetettore e la RM.

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  1. Di.M.I.M.P., Sezione di Diagnostica per Immagini, Policlinico Universitario, Piazza Giulio Cesare 11, 70124, Bari, Italy

    M. Memeo, A. Scardapane, R. De Blasi, C. Sabbà, A. Carella & G. Angelelli

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  1. M. Memeo
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Memeo, M., Scardapane, A., De Blasi, R. et al. Diagnostic imaging in the study of visceral involvement of hereditary haemorrhagic telangiectasia. radiol med 113, 547–566 (2008). https://doi.org/10.1007/s11547-008-0276-3

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