Hereditary hemorrhagic telangiectasia-related epistaxis: innovations in understanding and management

Abstract

Background: Epistaxis is the most common manifestation of hereditary hemorrhagic telangiectasia (HHT), affecting approximately 90% of patients at some point during their lifetime. Bleeding is chronic and varies from mild, self-limited episodes to severe, transfusion-dependent or life-threatening epistaxis. Treatment options vary from conservative, nonsurgical management to more aggressive surgical approaches. A number of treatment options have been introduced in recent years. There is little consensus in the literature regarding treatment algorithms. The objective of this investigation was to provide a contemporary review of HHT-related epistaxis, including pathophysiology, disease manifestations, and state-of-the-art treatment modalities.

Methods: A systematic review of the literature for HHT-related epistaxis was performed using the search terms "hereditary hemorrhagic telangiectasia" and "epistaxis." Additional literature search regarding current recommendations for HHT evaluation and recent developments in genetic mechanisms, pathophysiology, and treatment of HHT was also performed.

Results: A total of 308 articles were identified and reviewed for appropriateness of inclusion whereas 64 articles met inclusion criteria. Treatment options range from topical and hormonal therapy to more aggressive surgical modalities. Most treatment descriptions are case series, with few randomized controlled trials. A number of new and novel therapies have been introduced in recent years.

Conclusion: HHT is a heterogeneous disease requiring multidisciplinary evaluation and treatment. Therapeutic options for HHT-related epistaxis vary from conservative, nonsurgical measures to more aggressive surgical treatments. A graduated treatment plan is recommended. Patients present with a wide degree in variation of severity of epistaxis, and treatment is best tailored to the individual patient.