Hereditary hemorrhagic telangiectasia in pediatrics: descriptive study in a specialized unit.

Abstract

Introduction. Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by bleeding telangiectasias and arteriovenous malformations (AVMs) in the brain, lungs, liver, and gastrointestinal tract. In childhood, its manifestations are often subtle or absent, making it difficult to recognize. The lack of evidence in pediatrics, especially in Latin America, favors underdiagnosis and limits the timely management of its complications. This study describes the epidemiological, clinical, genetic, and therapeutic characteristics of pediatric patients with HHT at a referral center. Population and methods. Retrospective, descriptive study of pediatric patients evaluated between 2010 and 2022 in the HHT Unit of a referral center. Epidemiological, clinical, genetic, and therapeutic data were collected from the institutional registry. Results. A total of 158 patients were included, mainly from Buenos Aires and surrounding areas; nearly 70% consulted due to a family history of the disease. The average age at the first consultation was 9 years, with 52% of participants being female. HHT was confirmed in 80 patients using Curaçao criteria and/or genetic testing, with a positivity rate of 50%. Mutations were identified in ACVRL1 (56%), ENG (40%), and MADH4 (2.7%). Epistaxis was the most common symptom (92%), with an average onset at age 7. Pulmonary (13%), central nervous system (11%), hepatic (8%), and digestive (2%) AVMs were detected. Conclusion. The importance of early diagnosis of HHT in pediatrics, as well as the need to recognize signs such as recurrent epistaxis or unexplained hypoxemia, is highlighted to facilitate detection and specialized treatment.