HHT Health Initiatives for the 21st Century

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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
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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

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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 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
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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/presentation
  s

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Why 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

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Preventable 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)

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

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First report suggestive of HHT
Familial Epistaxis

Henry Gawen Sutton, M.D.
Sutton HG Medical Mirror 1864 (London) 1,
769-781
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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

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Hanes, FM 1909, Bull Johns Hopkins Hosp
2063-75
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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 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.
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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
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Patient Care ConferencesNational 13 Regional
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• 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

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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.

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HHT 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
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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

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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