Abordaje diagnóstico y tratamiento del síndrome de Rendu-Osler-Weber

Abstract

Rendu-Osler-Weber syndrome, also known as hereditary hemorrhagic telangiectasia, is a genetic disease of autosomal dominant hereditary predominance that is characterized by the presence of arteriovenous malformations and telangiectasia lesions especially in the skin, mucous membranes, digestive tract and respiratory system. The objective of this study is to describe the diagnostic and treatment approach. These malformations can cause recurrent episodes of bleeding leading to complications, such as anemia and heart failure. Its prevalence is approximately 1 in every 5,000 people worldwide. However, due to the underdiagnosed nature of the disease, it is possible that this number underestimates its true prevalence. It is crucial to determine the most effective and safe therapeutic options for the management of this syndrome. Including pharmacological measures, surgical interventions and interventional radiology therapies. The presence of arteriovenous malformations can cause strokes or hemorrhages, which demonstrates its relevance. Early and proper diagnosis is crucial and it is important to raise awareness in the medical community and educate health professionals, to facilitate their detection and diagnosis. Research into future therapies and genetic counseling would help identify biomarkers, specific treatment targets and innovative therapeutic approaches that can improve your health and quality of life.