Randu - Osler - Weber disease (or hereditary hemorrhagic teleangectasia) with respiratory involvement

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominantly inherited disease characterized by various vascular defects, including nosebleeds, dilation of blood vessels (telangiectasias), and arteriovenous malformations (AVMs) in the lungs and other internal organs. Pulmonary AVMs are observed in 15 - 50% of patients with HHT. The disease manifests in childhood, with the severity of clinical manifestations increasing throughout the patient’s life. The eponymous name of Randu - Osler - Weber disease comes from the surnames of the physicians who first described it in the mid-19th century. Despite some progress in understanding its etiology and pathogenesis, treatment tactics remains incomplete.The aim of this review is to systematize information on the etiology, diagnosis, and treatment of HHT. This review presents the current status of the problem, lists the main diagnostic tests and the principles of pharmacological and surgical treatment.Conclusion. The polyorganic lesions in HHT require an interdisciplinary approach to the management of these patients both in childhood and in adulthood. With the discovery of the genetic basis of the disease, pathogenetic therapy with humanized monoclonal antibodies seems promising. However, this therapy requires further research.