Webinar: Hereditary Hemorrhagic Telangiectasia in 2021: Diagnosis and Advances in Treatment

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07/04/23

Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu disease) is an autosomal dominant bleeding disorder due to abnormal blood vessel formation affecting approximately 1 in 5,000 individuals. Bleeding manifestations occur in nearly all patients, characterized by recurrent nosebleeds and/or chronic gastrointestinal bleeding. Bleeding commonly leads to iron deficiency anemia, which can be severe and result in dependence on regular support with iron infusion and red cell transfusion. Most patients with HHT also develop arteriovenous malformations in visceral organs, typically the lung, liver, and brain. Diagnosis and management of HHT can be challenging and requires a multidisciplinary approach, similar to hemophilia and other bleeding disorders.

Dr. Kasthuri and Dr. Al-Samkari will discuss various aspects of HHT including inheritance, clinical manifestations, approach to diagnosis, screening and management. The prevalence of anemia in the HHT population and challenges with its management that are unique to HHT will be emphasized, as will the emergence of systemic therapies to treat bleeding. In particular, systemic antiangiogenic treatments that are changing the treatment landscape of HHT will be highlighted. Additionally, the recently published Second International Guidelines for the Diagnosis and Treatment of HHT will be reviewed and discussed.

Learning Objectives
1. List common presentations and an approach to diagnosis of HHT.
2. Describe some of the challenges with anemia management in HHT and strategies that may be helpful in its management.
3. Describe the HHT Treatment Guidelines and recognize the emergence of systemic antiangiogenic therapies as a treatment modality in HHT.