Hereditary hemorrhagic telangiectasia in Uruguay: prevalence and clinical characteristics from a national reference network

Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular disorder characterized by mucocutaneous telangiectases and visceral arteriovenous malformations (AVMs). Despite its clinical relevance, epidemiological data from Latin America remain scarce. This study aimed to describe the clinical and epidemiological characteristics of patients with HHT in Uruguay and to provide an estimate of disease prevalence. Methods A descriptive cross-sectional study was conducted in 2023 based on a national clinical registry maintained by an HHT reference network. Patients with a clinical diagnosis of HHT according to Curaçao criteria were included. Data were collected through physician-administered telephone questionnaires and verified against medical records when available. Additional cases identified through a snowball sampling strategy were included exclusively for prevalence estimation. Descriptive statistical analyses were performed. Results A total of 134 patients were identified, yielding an estimated minimum prevalence of 3.83 per 100,000 inhabitants (95% CI, 3.26–4.61). Clinical analysis included 90 patients. The mean age was 48.2 years (SD ± 18.3), and the mean diagnostic delay was 5.7 years (SD ± 10.6). Epistaxis was reported in 88.9% of patients, with more than half presenting moderate to severe disease. The mean lowest hemoglobin level was 8.26 g/dL (SD ± 3.48), reflecting a substantial burden of anemia. Visceral involvement included pulmonary AVMs in 20%, cerebral AVMs in 15.7%, and hepatic AVMs in 18.9% of patients. Seventeen patients (18.9%) experienced at least one neurological complication. Only 21.1% of patients completed guideline-recommended screening. Treatment was mainly supportive, with iron supplementation and antifibrinolytics, while access to advanced therapies was limited. Conclusions This study provides the first national estimate of HHT prevalence in Uruguay and highlights significant underdiagnosis, delayed recognition, and gaps in comprehensive screening. Structural barriers within a fragmented healthcare system may limit adherence to guideline-based care. Strengthening awareness, improving access to genetic testing, and implementing coordinated care pathways are essential to optimize outcomes for patients with HHT.