Creation of a Novel Framework Resource for the New Hereditary Hemorrhagic Telangiectasia Patient Journey

Background: Hereditary hemorrhagic telangiectasia (HHT) impacts one in every 5,000 individuals worldwide. HHT, also known as Osler-Weber-Rendu syndrome, affects both children and adults and is characterized by multiple arteriovenous malformations (AVMs) in various organ systems, mucous membranes, and on the skin. These AVMs in organs can lead to complications and mucocutaneous telangiectasias that can rupture spontaneously and cause recurrent bleeding. It can take over 25 years to be correctly diagnosed with HHT, which speaks to the public health significance of the condition. New HHT patients and providers without extensive knowledge need a framework resource to follow to ensure the correct steps are taking place to correctly diagnose and manage HHT patients. Moreover, it is important to recognize the difference in access to healthcare for people of lower socioeconomic status (SES). Managing a disease can be expensive and the framework resource will reduce the disparity in information accessible to those who cannot afford to visit an HHT Center of Excellence (COE). Methods: A SurveyMonkey survey was created and distributed to 30 COEs in North America. Center directors, geneticists, genetic counselors, and other medical providers responded to the survey to provide insight on what steps should be included in a novel framework resource for HHT patients. Results: Survey respondents ordered provided steps to determine what the typical HHT patient journey should look like. An adult framework resource was developed based on these survey results and a pediatric framework resource was adapted from the adult resource to include pediatric specific recommendations from the published literature. Respondents also commented on the different payment methods used by COE patients, suggesting individuals of lower SES do not visit COEs as often as people of higher SES. Conclusions: A novel framework resource was developed based on survey results to give HHT patients of all demographic groups the appropriate information to manage their condition