Hereditary Hemorrhagic Telangiectasia: Diagnosis, Management, and Advances
HemeTalks: Conversations in Hematology Education
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Show Notes
Join us for an insightful discussion on hereditary hemorrhagic telangiectasia (HHT) with Drs. Hanny Al-Samkari and Adrienne Hammill as we explore the challenges in diagnosing and managing this genetic disorder. HHT is characterized by the development of bleeding nasal and gastrointestinal telangiectasias, as well as arteriovenous malformations (AVMs) in visceral organs and the central nervous system. Patients with HHT almost universally experience recurrent, often severe nose bleeding, and commonly develop gastrointestinal bleeding and complications of AVMs in the lung, liver, and/or brain. Through the case of a 40-year-old woman with recurrent bleeding episodes, we will explore the clinical features, diagnostic workup, and treatment options for HHT. This episode will provide valuable, evidence-based insights into how to approach the diagnosis and management of patients with HHT to improve outcomes and prevent complications.
Learning Objectives:
- Identify the hallmark clinical features and diagnostic criteria for hereditary hemorrhagic telangiectasia (HHT).
- Explain the role of imaging and genetic testing in diagnosing HHT and assessing vascular malformations.
- Discuss management strategies, including proper pharmacologic management of chronic epistaxis and gastrointestinal bleeding, proper management of anemia, and management of AVMs.