Clinical Characteristics and Comorbidities of Hereditary Hemorrhagic Telangiectasia / 대한이비인후과학회지

ABSTRACT

BACKGROUND AND OBJECTIVES: Hereditary hemorrhagic telangiectasia (HHT), often manifested as epistaxis, is also manifested in combination with serious comorbid diseases. The authors reviewed 12 cases of HHT and investigated the manifestations and comorbid diseases of HHT in the Korean population. SUBJECTS AND METHOD: Medical records of the HHT patients in our department from July 2004 to December 2011 were reviewed retrospectively. Twelve patients who had been classified as definite or possible HHT according to the Curacao criteria were enrolled in this study. Clinical manifestations, treatment methods, results, and comorbid diseases were investigated. RESULTS: Recurrent epistaxis occurred in 100% of the patients. Epistaxis was managed by bipolar or laser cauterization (n=9), embolization of the feeding vessel (n=1), intranasal application of bevacizumab (Avastin(R))(n=2) or septodermoplasty (n=1). The symptoms of seven patients showed much improvement while the other two did not. Comorbid diseases included pulmonary arteriovenous malformation (AVM) in 5 patients (41.7%) and cerebral AVM in 2 patients (16.7%). Three patients with pulmonary AVM received embolization and one patient with cerebral AVM received gamma knife surgery with good prognosis. CONCLUSION: Epistaxis by HHT can be improved by active treatment using various methods. Pulmonary and cerebral AVMs are common comorbid diseases and should be considered in the management of HHT.