Title: HHT Health Initiatives for the 21st Century
1HHT 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
2HHT 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
-
3HHT 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 Gene
ticists Genetic Counselors Hematologists Intern
al Medicine Molecular Geneticists Neurologists Nu
rse practitioners Otorhinolaryngologists Pediatri
cians Pulmonologists Radiologists,
diagnostic Radiologists, interventional School
Nurses Vascular surgeons
Together we can make a difference
4What 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/presentation
s
5Why spend time, energy and resources on HHT?
HHT Health Initiatives for the 21st Century
- Prevalence in US
- - ? 15,000-10,000
- - 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
6Preventable HHT-related Healthcare
CostsEstimated costs per incident
HHT Health Initiatives for the 21st Century
(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)
7Preventable HHT-related Healthcare Costs
(Data from 18 Years of Yale HHT Center Statistics)
8HHT Health Initiatives for the 21st Century The
path to Atlanta
- First descriptions - late 1800s
- Advances in imaging and interventional radiology
- 1970s - Birth of HHT Foundation - late 1980s,
incorporated 1991 - Formation of Scientific and Medical Advisory
Board - 1992 - Grass roots efforts of persons families with
HHT - early 1990s - Establishment of new HHT Centers of Excellence
- Annual patient care conferences
- International Scientific meetings - significant
growth - Identification of genes for HHT - mid-1990s
- 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
9First report suggestive of HHT
Familial Epistaxis
Henry Gawen Sutton, M.D.
Sutton HG Medical Mirror 1864 (London) 1,
769-781
10Bull. 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
11Hanes, FM 1909, Bull Johns Hopkins Hosp
2063-75
12HHT 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 worldwide while advocating for
patient access to these Centers. Advocate for
and support those with HHT while increasing
public, private, and governmental awareness of
the disorder. Engage the scientific and medical
community so that talented individuals dedicate
efforts toward advances in HHT screening,
diagnosis, treatment, and research.
13HHT 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
14Patient Care ConferencesNational 13 Regional
3
- International Scientific Conferences
- 7 since 1996
- International diagnostic criteria consensus- 1997
- Liver guidelines - 2005
- 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
15HHT 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.
16HHT Health Initiatives for the 21st Century The
path to Atlanta
- First descriptions - late 1800s
- Advances in imaging and interventional radiology
- 1970s - Birth of HHT Foundation - late 1980s,
incorporated 1991 - Formation of Scientific and Medical Advisory
Board - 1992 - Grass roots efforts of persons families with
HHT - early 1990s - Establishment of new HHT Centers of Excellence
- Annual patient care conferences
- International Scientific meetings - significant
growth - Identification of genes for HHT - mid-1990s
- 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
17HHT 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
18HHT 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