Hereditary Hemorrhagic Telangiectasia: What the Otolaryngologist Should Know

Abstract

Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is a systemic autosomal dominant disorder involving blood vessels. Phenotypically, the disease presents with telangiectases that involve all areas of the body. Ninety percent of patients experience epistaxis and are referred to the otolaryngologist for evaluation. Because otolaryngologists may be the primary physicians caring for these patients, it is critical they be knowledgeable about high risk groups, screening protocols for arteriovenous malformations, antibiotic prophylaxis, and genetic screening. It is important that they be aware of the many therapeutic modalities available for the treatment of epistaxis. In this article, the diagnosis, screening, treatment, and molecular genetics of HHT will be discussed. In addition, our experience with 20 patients treated with the Nd:YAG laser for recurrent epistaxis will be reviewed.