Hereditary Hemorrhagic Telangiectasia in Uruguay: Epidemiologic and clinical features of the evaluated population.

Abstract

Background Hereditary Hemorrhagic Telangiectasia (HHT) is a rare autosomal dominant vascular dysplasia, characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations (AVMs). Despite an estimated global prevalence of 1 in 5,000, HHT remains underdiagnosed in many regions. Prior to this study, no epidemiologic data were available for Uruguay. Objective To describe the epidemiologic and clinical characteristics of HHT patients in Uruguay, estimate the national prevalence of the disease, assess adherence to international screening guidelines, and diagnostic delays. Methods A cross-sectional observational study was conducted in Uruguay using data from the national HHT reference registry. Patients who met the Curaçao criteria or had a confirmed pathogenic genetic variant were included. Data were obtained through a standardized telephone survey and medical record review. Variables included demographic data, clinical manifestations, diagnostic workup, and treatment. Descriptive and bivariate analyses were performed using SPSS software. Results The registry included 134 patients, of whom 90 were surveyed. Estimated HHT prevalence in Uruguay was 3.83 per 100,000 inhabitants (95% CI, 3.26 - 4.61). The mean age was 48.2 years (SD ± 18.3), with a female-to-male ratio of 1.73:1. Epistaxis affected 88.9% of adults, with more than 50% classified as moderate-to-severe and had anemia. Common treatments included oral (60.7%) and intravenous (41.6%) iron, tranexamic acid (24.7%), and propranolol (11.2%). Pulmonary, cerebral, hepatic and digestive arteriovenous malformations were present in 20%, 15%,19% and 50% of patients, respectively. The mean diagnostic delay was 5.7 years (SD ± 10.6). Only 22% of patients completed the recommended screening. Conclusion HHT remains underdiagnosed and undertreated in Uruguay, with significant diagnostic delays and low adherence to international screening guidelines. This first national epidemiological study underscores the urgent need for a formally recognized national referral center to ensure high-quality, multidisciplinary care and to raise disease awareness, with the aim of reducing preventable complications.