Natural History and Outcome of Hepatic Vascular Malformations in a Large Cohort of Patients with Hereditary Hemorrhagic Teleangiectasia

BACKGROUND: Hereditary hemorrhagic telangiectasia is a genetic disease characterized by teleangiectasias involving virtually every organ. There are limited data in the literature regarding the natural history of liver vascular malformations in hemorrhagic telangiectasia and their associated morbidity and mortality. AIM: This prospective cohort study sought to assess the outcome of liver involvement in hereditary hemorrhagic telangiectasia patients. METHODS: We analyzed 16 years of surveillance data from a tertiary hereditary hemorrhagic telangiectasia referral center in Italy. We considered for inclusion in this study 502 consecutive Italian patients at risk of hereditary hemorrhagic telangiectasia who presented at the hereditary hemorrhagic telangiectasia referral center and underwent a multidisciplinary screening protocol for the diagnosis of hereditary hemorrhagic telangiectasia. Of the 502 individuals assessed in the center, 154 had hepatic vascular malformations and were the subject of the study; 198 patients with hereditary hemorrhagic telangiectasia and without hepatic vascular malformations were the controls. Additionally, we report the response to treatment of patients with complicated hepatic vascular malformations. RESULTS: The 154 patients were included and followed for a median period of 44 months (range 12-181); of these, eight (5.2%) died from VM-related complications and 39 (25.3%) experienced complications. The average incidence rates of death and complications were 1.1 and 3.6 per 100 person-years, respectively. The median overall survival and event-free survival after diagnosis were 175 and 90 months, respectively. The rate of complete response to therapy was 63%. CONCLUSIONS: This study shows that substantial morbidity and mortality are associated with liver vascular malformations in hereditary hemorrhagic telangiectasia patients

Preoperative local staging of colo-sigmoideal cancer: air versus water multi detector row CT colonography

PURPOSE: The authors sought to evaluate the diagnostic accuracy of multidetector-row computed tomography (MDCT) performed with two different hypodense endoluminal contrast agents for the preoperative staging of colosigmoideal cancer. MATERIALS AND METHODS: Seventy consecutive patients with an endoscopically and histologically proven diagnosis of colosigmoideal cancer underwent MDCT examination. Thirty-five patients were evaluated with water MDCT colonography and the remaining 35 with air MDCT colonography. Patients were randomly assigned to the air or water groups for staging. Transverse images and multiplanar reconstructions (MPR) were retrospectively examined by two blinded expert radiologists in order to assess T and N parameters, and the results were compared with histological findings. RESULTS: The overall diagnostic accuracy of MDCT was 68.6% for water and 62.8% for air colonography. In the evaluation of the T parameter, the accuracy values were 88.6% for water and 80% for air colonography. In staging of the N parameter, the accuracy values were 77.1% and 74.3% for water and air MDCT colonography, respectively. CONCLUSIONS: MDCT examination can be proposed for the local staging of colosigmoideal cancer. Water is more accurate than air in evaluation of the T parameter, whereas the kind of endoluminal contrast material does not influence the definition of the N parameter