Hereditary hemorrhagic telangiectasias: a challenge for the clinician

Abstract

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) remains a challenge for all clinicians, as in about 80% of cases nasal bleeding is the first manifestation of this disease, which is characterized by a clinical triad of multiple telangiectasias, recurrent hemorrhages and familial occurrence. Although in the last few years there has been diagnostic and therapeutic progress, a cure for this rarely life-threatening but often burdening and handicapping disease is still not possible. We have reviewed head and neck presentations, diagnostic and therapeutic features, as well as new insights into the molecular genetics of the disease and local treatment now available.