Hereditary hemorrhagic telangiectasia: a review of 76 cases

Hereditary hemorrhagic telangiectasia has long been viewed as a rare condition. Recent evidence indicates that the disorder is more frequent than previously thought. Recalcitrant epistaxis is a salient feature of this disease, and the otolaryngologist is often called on to make the diagnosis and guide the primary management of patients with hereditary hemorrhagic telangiectasia. Wider recognition of this condition, awareness of the natural history and associated findings, appropriate workup and screening for arteriovenous malformations (lungs, brain, liver), and knowledge of appropriate interventions can help avoid the considerable morbidity associated with hereditary hemorrhagic telangiectasia.

Retrospective review.

Records of patients treated by the senior author (S.M.S.) for hereditary hemorrhagic teleangiectasia from 1993 to 2000 were reviewed.

Seventy-six patients were identified, 98% of whom had epistaxis as their presenting complaint, with 75% having a family history of hereditary hemorrhagic telangiectasia. The severity of epistaxis varied in the patients: 66% had mild, 21% moderate, and 13% severe epistaxis. Sixty-four percent of patients had no transfusions, 25% had 1 to 10 transfusions, and 11% of patients had more than 10 transfusions. Complications of hereditary hemorrhagic telangiectasia were documented in 30% of patients. Screening for arteriovenous malformations was performed in only 34% of patients. Eighty-two percent of patients received a variable number of Nd:YAG laser treatments.

The study presents the largest retrospective review of patients treated for hereditary hemorrhagic telangiectasia by a single otolaryngologist. The importance of a multidisciplinary approach facilitated by the otolaryngologist for evaluation of concomitant complications and morbidity (arteriovenous malformations) from hereditary hemorrhagic telangiectasia is demonstrated. An algorithm for controlling the epistaxis is presented.