Abstract
Objective: 1) Learn about the initial experiences of a Hereditary Hemorrhagic Telangectasia (HHT) Center of Excellence. 2) Understand which HHT patients require otolaryngologic evaluation and interventions, and review other common clinical manifestations of the disease.
Method: We performed a retrospective review of all patients from the Southwestern United States referred to our HHT Center of Excellence from its inception in May 2010 through February 2012. Clinical presentation, radiographic imaging, genetic testing, otolaryngologic treatments, and other operative interventions were analyzed.
Results: In 2010 a dedicated center was started at our tertiary medical center to manage patients with HHT, an autosomal dominant disease with a prevalence of 1:5000. Of the 159 patients referred, 86 have HHT based on genetic testing or Curacao clinical criteria. Seventy-three do not have HHT or are undergoing further workup. Fourteen patients have sought otolaryngologic evaluation for relentless epistaxis or oral bleeding, with 50% of these requiring KTP laser ablation for symptomatic nasal and oral telangectasias. Additionally, 21 patients have required embolization, neurosurgical clipping, or radiation for enlarging or symptomatic arteriovenous malformations in the lung, brain, and abdomen.
Conclusion: An HHT Center of Excellence is important in providing comprehensive care for patients with this rare disease with significant clinical sequelae. Otolaryngologists are critical members of this multidisciplinary team performing interventions in the clinic and operating room to improve quality of life for these patients.
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