Abstract
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disorder affecting blood vessels of the skin, mucous membrane and viscera. Epidemiologic studies have revealed a wide range of incidences, with agreement in Europe and Japan at rates between 1:5000 and 1:8000. Mutations in at least five genes can cause HHT, with the two major disease genes on chromosome 9 (endoglin) and chromosome 12 (ALK-1) responsible for HHT.
HHT patients vary greatly in course and severity of epistaxes. Most patients have self-limiting nasal bleeding and do not require hospitalization, but about one-third have severe hemorrhage necessitating admission and treatment. Clinical diagnosis of HHT is made according to the four Curaçao criteria.
A variety of treatment strategies have been employed. These include LASER coagulation, hormonal therapy, embolization, nasal dermoplasty (ND) and nostril closure. It is difficult to make specific treatment recommendations for a disease that may have a wide spectrum of clinical manifestations including minimal to life-threatening degrees of epistaxis. The LASER has been used as first line therapy or as additional therapy after more conventional therapies have failed. Our study demonstrated ND to be an effective procedure for HHT patients with moderate or severe nasal bleeding. The nasal mucosa of the anterior part of the septum, nasal floor and the lateral wall are removed. A split skin graft is usually used to cover the denuded area. ND can offer patients reduced frequency of bleeding. In severe and intractable cases, modified Young's procedure (nostril closure) has been shown to be most effective.
