Rendu-Osler-Weber disease: experience with 56 patients.

ABSTRACT

Rendu-Osler-Weber disease, or hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant disease characterized by systemic vascular dysplasia. The prevalence varies and ranges, according to region, from 1/3500 to 1/5000. Data concerning Italy are not available. The diagnosis is based on the following criteria family history, epistaxis, telangiectases and visceral arteriovenous malformations. The diagnosis is to be considered definite if three criteria are present and suspected if two criteria are present. From September 2000 to March 2002, 100 patients (63 males, 37 females, mean age 45.5 +/- 17.3 years) potentially affected by HHT were evaluated in the HHT Center of the "Augusto Murri" Internal Medicine Section at the University of Bari (on a day-hospital or hospitalization basis). The diagnosis of HHT was confirmed in 56 patients and suspected in 10. Magnetic resonance imaging revealed cerebral arteriovenous malformations in 8.5% of patients. In 14.6% of patients contrast echocardiography revealed pulmonary arteriovenous malformations subsequently confirmed at multislice computed tomography in all cases but one. In 48.2% of subjects hepatic vascular malformations were revealed by echo color Doppler ultrasonography, whereas abdominal multislice computed tomography was positive in 63.8% of patients. In 64% of the 25 patients, who underwent endoscopy, gastric telangiectases were found. In 3 out of 6 patients presenting with pulmonary arteriovenous malformations, embolotherapy was performed with success. In our patients, the use of tranexamic acid caused a reduction in the frequency of epistaxis. The future objectives of the HHT Center of Bari are to increase knowledge of the disease, to cooperate with other centers with the aim of increasing the number of patients studied and to avoid the limits of therapeutic and diagnostic protocols of a rare disease such as HHT.