Liver involvement in a large cohort of patients with hereditary hemorrhagic telangiectasia: Echo-color-Doppler vs multislice computed tomography study q Paolo Buonamico 1,  , Patrizia Suppressa 1,  , Gennaro M. Lenato 1 , Giovanna Pasculli 1 , Francesco D’Ovidio 2 , Maurizio Memeo 3 , Arnaldo Scardapane 3 , Carlo Sabba ` 1, * 1 Unit of Internal Medicine, Department of Internal Medicine and Public Health, Interdepartmental HHT Centre, University of Bari – Policlinico, Piazza Giulio Cesare 11, Bari 70124, Italy 2 Department of Statistics, Department of Internal Medicine and Public Health, Interdepartmental HHT Centre, University of Bari, Bari, Italy 3 Unit of Radiology, Interdepartmental HHT Centre, University of Bari, Bari, Italy Background/ Aims: Hepatic arterio-venous malformations (HAVMs) have been found in 74% of hereditary hemorrhagic telangiectasia (HHT) patients with multislice CT (MSCT). This single-blind study aimed to compare the diagnostic accu- racy of echo-color-Doppler with MSCT and identify the most sensitive ultrasound criteria indicating hepatic shunts. Methods: One hundred and fifty-three HHT patients were systematically screened for HAVMs by biological tests, abdominal MSCT and echo-color-Doppler. Twenty-five normal subjects and 15 cirrhotic patients were also included as control groups. Both intrahepatic (‘‘color spots” and hypervascularization) and extrahepatic parameters (diameter, flow velocity and tortuosity of hepatic artery and diameter and flow velocity of portal / hepatic vein) were utilized. ‘‘Color-spots” are defined as subcapsular vascular spots with a high-velocity arterial blood flow and low resistivity index and can identify extremely small HAVMs. Results: CT was positive in 128/ 153 (84%) patients and Doppler color spots were found in 131/153 (86%) patients. The sen- sitivity, specificity and diagnostic accuracy of ‘‘color spots” compared to MSCT were 95.3%, 68.0% and 91.8%, respectively. The ‘‘color-spot” showed a greater correlation to CT (V index = 0.655; p < 0.0001) than extrahepatic criteria (V = 0.317). In 20/29 (69%) subjects, echo-color-Doppler, confirmed by CT, identified the third criterion for definite HHT diagnosis. Conclusions: Intrahepatic criteria was superior to extrahepatic criteria for identification of HAVMs. A new Doppler param- eter (‘‘color-spots”) with an optimal accuracy for detecting HAVMs is proposed for easy periodic screening of HHT patients. Ó 2008 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved. Keywords: HHT; Arterio-venous malformations; Liver shunts; Multislice CT; Echo-color-Doppler; Color spots; Hyper- vascularization 1. Introduction Hereditary hemorrhagic telangiectasia (HHT) or Rendu–Osler–Weber disease is a predominantly inher- ited disorder involving structural abnormalities of small veins involving the skin, mucosa and internal organs, determining frequent bleeding episodes. Its prevalence has been estimated at 1/8000 [1]. Mutations in two dif- ferent genes, ENG located on chromosome 9q33–q34 [2] and ALK-1 or ACVRL1 on chromosome 12q13 [3], characterize HHT1 and HHT2, respectively. The two 0168-8278/$34.00 Ó 2008 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved. doi:10.1016/j.jhep.2007.12.022 Received 16 July 2007; received in revised form 15 November 2007; accepted 14 December 2007; available online 14 February 2008 Associate Editor: M.P. Manns q The authors declare that they do not have anything to disclose regarding funding from industries or conflict of interest with respect to this manuscript. * Corresponding author. Tel./fax: +39 080 5478708. E-mail address: c.sabba@dimimp.uniba.it (C. Sabba `).   These authors contributed equally to this work. Abbreviations: HHT, hereditary hemorrhagic telangiectasia; AVMs, arterio-venous malformations; MSCT, multislice CT; ECD, echo-color-Doppler; RI, resistivity index; PV, portal vein; HA, hepatic artery; RI, resistance index; V max , maximum velocity; THADS, tran- sient hepatic attenuation differences. www.elsevier.com/locate/jhep Journal of Hepatology 48 (2008) 811–820