HHT Health Initiatives for the 21st Century

1. HHT Health Initiatives for the 21st Century Conference Overview & Objectives Mark S. Chesnutt, M.D. Director, Critical Care, Portland VA Medical Center Director, HHT Center of Excellence, Dotter Interventional Institute Associate Professor of Medicine, Pulmonary & Critical Care Medicine Oregon Health & Sciences University

2. HHT Health Initiatives for the 21st Century Purpose of the Conference Bring together individuals from a broad range of disciplines to work to: 1. increase awareness of HHT in the United States 2. develop a plan to: - improve early recognition and intervention - improve clinical outcomes of persons with HHT • Ultimate goals • reduce health and economic impact of HHT • enhance quality of life of persons with HHT

3. HHT Health Initiatives for the 21st Century Participants in this process Representatives from governmental and non-governmental organizations with interests in patient care and research Representatives from health care groups that are likely to encounter persons with HHT and who might be able to assist in early recognition, diagnosis and intervention Cardiologists Dentists Dental hygienists Dermatologists Emergency Medicine Family Medicine Gastroenterologists Geneticists Genetic Counselors Hematologists Internal Medicine Molecular Geneticists Neurologists Nurse practitioners Otorhinolaryngologists Pediatricians Pulmonologists Radiologists, diagnostic Radiologists, interventional School Nurses Vascular surgeons Together we can make a difference

4. What is Hereditary Hemorrhagic Telangiectasia? HHT Health Initiatives for the 21st Century • Complex genetic (autosomal dominant) blood vessel disorder • Defect in development of some blood vessels (capillaries), forming: • telangiectases • arteriovenous malformations or fistulas (AVM / AVF) • other vascular lesions • Wide range of clinical manifestations/presentations

5. Why spend time, energy and resources on HHT? HHT Health Initiatives for the 21st Century • Prevalence in US: - ? 1:5,000-10,000 - Up to 75,000 Americans may have HHT • Variable clinical presentation and health care provider awareness makes diagnosis of HHT challenging • Most serious complications (including death in 10-20% of persons with HHT) can be prevented by screening and treatment using successful approaches and techniques

6. HHT Health Initiatives for the 21st Century Preventable HHT-related Healthcare CostsEstimated costs per incident (Data from 18 Years of Yale HHT Center Statistics) • Ischemic stroke $400,000 • Brain abscess $500,000 • Cerebral hemorrhage $500,000 • Liver Transplant $315,000 • Multiple Blood Transfusions $ 24,000 (annually)

7. Preventable HHT-related Healthcare Costs (Data from 18 Years of Yale HHT Center Statistics)

8. HHT Health Initiatives for the 21st Century The path to Atlanta……… • First descriptions - late 1800’s • Advances in imaging and interventional radiology - 1970’s • Birth of HHT Foundation - late 1980’s, incorporated 1991 • Formation of Scientific and Medical Advisory Board - 1992 • Grass roots efforts of persons & families with HHT - early 1990’s • Establishment of new HHT Centers of Excellence • Annual patient care conferences • International Scientific meetings - significant growth • Identification of genes for HHT - mid-1990’s • Analysis of impact on morbidity and mortality • Successful HHT Foundation fund raising to support research • International Guidelines Consensus Conference - 2006 • NIH HHT Research Conference - 2006 • Ongoing efforts to increase funding of clinical care and research • Congressional language established CDC and NIH relationships

9. First report suggestive of HHT Familial Epistaxis Henry Gawen Sutton, M.D. Sutton HG: Medical Mirror: 1864 (London) 1, 769-781

10. Bull. Johns Hopkins Hospital: 1901, 12, 333-337 • Four patients with familial epistaxis and telangiectasias of the skin and mucus membranes • Differentiation from hemophilia since bleeding occurred only from sites with telangiectasias • Referenced articles of Babington and Rendu

11. Hanes, FM: 1909, Bull Johns Hopkins Hosp: 20:63-75

12. HHT Foundation International Mission: to find a cure for HHT while saving the lives and improving the well-being of individuals and families affected by HHT. To achieve this mission, the HHT Foundation will: Fund research to find better treatments and a cure. Educate families and physicians about HHT so that awareness of crucial diagnosis and available treatments prevents needless disability and death. Provide linkages between people affected by HHT. Collaborate with multidisciplinary HHT Treatment Centers worldwidewhile advocating for patient access to these Centers. Advocate for and support those with HHTwhile increasing public, private, and governmental awareness of the disorder. Engage the scientific and medical communityso that talented individuals dedicate efforts toward advances in HHT screening, diagnosis, treatment, and research.

13. HHT Centers in North America * OHSU *Toronto *Mayo Clinic *Yale * Univ of Pennsylvania * Univ of Utah *Washington University * Univ of California, San Diego * Medical College of Georgia HHT Foundation efforts have included creation of HHT Centers of Excellence and direction of HHT patients to these centers

14. International Scientific Conferences 7 since 1996 International diagnostic criteria consensus- 1997 Liver guidelines - 2005 Patient Care ConferencesNational = 13 Regional = 3 Other Efforts 2 Hands-on Physician Training Programs Regional Network Alliances International Clinical Guidelines Conference Facilitation of Genetic Testing in the US 7 research grants totaling $450,000; one leveraged a $1 million FDA grant 11 Young Investigator Grants

15. HHT Language Reported by House and Senate Appropriations Committee- FY 2008 H.R. 3043, The Labor, HHS., Education and Related Agencies Appropriation Bill Encourages the CDC to establish an HHT resource center to increase identification of people with HHT, and increase knowledge, education and outreach of this largely preventable life-threatening condition. The Committee encourages CDC to provide information on effective evidence-based interventions and treatments to prevent premature death in the HHT population, improve outcomes and the quality of life for people living with HHT by creating a database to collect and analyze data, support epidemiology studies, provide surveillance, and train health care professionals. S. 1710, The Labor, HHS., Education and Related Agencies Appropriation Bill The Committee is aware of interest in the establishment of a Hereditary Hemorrhagic Telangiectasia National Resource Center. The Committee encourages the CDC to examine carefully proposals to establish such a center.

16. HHT Health Initiatives for the 21st Century The path to Atlanta……… • First descriptions - late 1800’s • Advances in imaging and interventional radiology - 1970’s • Birth of HHT Foundation - late 1980’s, incorporated 1991 • Formation of Scientific and Medical Advisory Board - 1992 • Grass roots efforts of persons & families with HHT - early 1990’s • Establishment of new HHT Centers of Excellence • Annual patient care conferences • International Scientific meetings - significant growth • Identification of genes for HHT - mid-1990’s • Analysis of impact on morbidity and mortality • Successful HHT Foundation fund raising to support research • International Guidelines Consensus Conference - 2006 • NIH HHT Research Conference - 2006 • Ongoing efforts to increase funding of clinical care and research • Congressional language established CDC and NIH relationships Despite efforts to date, many persons with HHT remain undiagnosed and experience significant morbidity and mortality

17. HHT Health Initiatives for the 21st Century Specific Objectives of the Conference • To define and prioritize strategies to: • Determine the prevalence of HHT in the United States • Disseminate HHT Evaluation and Treatment Guidelines • Increase early detection and diagnosis of persons with HHT • Form effective partnerships and collaborations • Increase funding for care of persons with HHT

18. HHT Health Initiatives for the 21st Century Conference agenda General sessions Overview of HHT Screening and Diagnosis HHT Guidelines Surveillance Approaches & Strategies Workshops Surveillance to determine prevalence Dissemination of HHT Guidelines Early diagnosis and intervention Workshop Summaries and Future Directions Recommendations for Next steps - Group Consensus Potential Funding Sources and First Wins Roadmap for HHT Public Health Initiatives for the 21st Century