HHT Health Initiatives for the 21st CenturyHHT Health Initiatives for the 21st Century

Conference Overview & ObjectivesConference Overview & Objectives

Mark S. Chesnutt, M.D.Mark S. Chesnutt, M.D.

Director, Critical Care, Portland VA Medical CenterDirector, Critical Care, Portland VA Medical Center

Director, HHT Center of Excellence, Dotter Interventional InstituteDirector, HHT Center of Excellence, Dotter Interventional Institute

Associate Professor of Medicine, Pulmonary & Critical Care MedicineAssociate Professor of Medicine, Pulmonary & Critical Care Medicine

Oregon Health & Sciences UniversityOregon Health & Sciences University

Mark S. Chesnutt, M.D.Mark S. Chesnutt, M.D.

Director, Critical Care, Portland VA Medical CenterDirector, Critical Care, Portland VA Medical Center

Director, HHT Center of Excellence, Dotter Interventional InstituteDirector, HHT Center of Excellence, Dotter Interventional Institute

Associate Professor of Medicine, Pulmonary & Critical Care MedicineAssociate Professor of Medicine, Pulmonary & Critical Care Medicine

Oregon Health & Sciences UniversityOregon Health & Sciences University

HHT Health Initiatives for the 21st CenturyHHT Health Initiatives for the 21st Century

Purpose of the ConferencePurpose of the Conference

Bring together individuals from a broad range of disciplines to Bring together individuals from a broad range of disciplines to work to:work to:

1. increase awareness of HHT in the United States1. increase awareness of HHT in the United States

2. develop a plan to:2. develop a plan to:- improve early recognition and intervention- improve early recognition and intervention- improve clinical outcomes of persons with HHT- improve clinical outcomes of persons with HHT

Ultimate goalsUltimate goals• reduce health and economic impact of HHTreduce health and economic impact of HHT• enhance quality of life of persons with HHTenhance quality of life of persons with HHT

HHT Health Initiatives for the 21st CenturyHHT Health Initiatives for the 21st Century

Participants in this processParticipants in this process

Representatives from governmental and non-governmental organizations Representatives from governmental and non-governmental organizations with interests in patient care and researchwith interests in patient care and research

Representatives from health care groups that are likely to encounter Representatives from health care groups that are likely to encounter persons with HHT and who might be able to assist in early recognition, persons with HHT and who might be able to assist in early recognition, diagnosis and interventiondiagnosis and intervention

CardiologistsCardiologists DentistsDentistsDental hygienists Dental hygienists DermatologistsDermatologistsEmergency MedicineEmergency Medicine Family MedicineFamily MedicineGastroenterologistsGastroenterologists GeneticistsGeneticistsGenetic Counselors Genetic Counselors HematologistsHematologistsInternal MedicineInternal Medicine Molecular GeneticistsMolecular GeneticistsNeurologistsNeurologists Nurse practitionersNurse practitionersOtorhinolaryngologistsOtorhinolaryngologists PediatriciansPediatriciansPulmonologistsPulmonologistsRadiologists, diagnosticRadiologists, diagnostic Radiologists, interventionalRadiologists, interventionalSchool NursesSchool Nurses Vascular surgeonsVascular surgeons

Together we can make a differenceTogether we can make a difference

What is Hereditary Hemorrhagic Telangiectasia?What is Hereditary Hemorrhagic Telangiectasia?

• Complex genetic (autosomal dominant) blood Complex genetic (autosomal dominant) blood vessel disordervessel disorder

• Defect in development of some blood vessels Defect in development of some blood vessels (capillaries), forming:(capillaries), forming:- telangiectasestelangiectases- arteriovenous malformations or fistulas (AVM / AVF)arteriovenous malformations or fistulas (AVM / AVF)- other vascular lesionsother vascular lesions

• Wide range of clinical manifestations/presentationsWide range of clinical manifestations/presentations

HHT Health Initiatives for the 21st CenturyHHT Health Initiatives for the 21st Century

Why spend time, energy and resources on HHT?Why spend time, energy and resources on HHT?

• Prevalence in US:Prevalence in US:- ? 1:5,000-10,000- ? 1:5,000-10,000

- Up to 75,000 Americans may have HHT- Up to 75,000 Americans may have HHT

• Variable clinical presentation and health care Variable clinical presentation and health care provider awareness makes diagnosis of HHT provider awareness makes diagnosis of HHT challengingchallenging

• Most serious complications (including death in Most serious complications (including death in 10-20% of persons with HHT) can be 10-20% of persons with HHT) can be prevented by screening and treatment using prevented by screening and treatment using successful approaches and techniquessuccessful approaches and techniques

HHT Health Initiatives for the 21st CenturyHHT Health Initiatives for the 21st Century

PreventablePreventable HHT-related Healthcare Costs HHT-related Healthcare CostsEstimated costs per incidentEstimated costs per incident

• Ischemic strokeIschemic stroke $400,000$400,000• Brain abscessBrain abscess $500,000$500,000• Cerebral hemorrhageCerebral hemorrhage $500,000$500,000• Liver TransplantLiver Transplant $315,000$315,000

• Multiple Blood TransfusionsMultiple Blood Transfusions $ $ 24,000 24,000 (annually)(annually)

(Data from 18 Years of Yale HHT Center Statistics)

HHT Health Initiatives for the 21st CenturyHHT Health Initiatives for the 21st Century

PreventablePreventable HHT-related Healthcare Costs HHT-related Healthcare Costs

Organ Organ Involvement Involvement

Organ IncidenceOrgan Incidence(Individuals may have more (Individuals may have more

than one organ involved)than one organ involved)

PreventablePreventable ComplicationsComplications

AmericansAmericans with with

PreventablePreventable ComplicationsComplications

Estimated US Estimated US Healthcare Healthcare

CostsCosts

Lung AVMLung AVM 18,000 Americans18,000 Americans StrokeStroke

Brain AbscessBrain Abscess

4,500 Americans4,500 Americans

4,500 Americans4,500 Americans

$1.8 billion$1.8 billion

$2.25 billion$2.25 billion

Brain AVMBrain AVM 6,000 Americans6,000 Americans SeizuresSeizures

Brain HemorrhageBrain Hemorrhage3,000 Americans3,000 Americans $1.5 billion$1.5 billion

GI BleedingGI Bleeding 12,000 Americans12,000 Americans Chronic Anemia Chronic Anemia Blood TransfusionBlood Transfusion

DependenceDependence

6,000 Americans6,000 Americans $144 million / year$144 million / year

Liver AVMsLiver AVMs 48,000 Americans48,000 Americans Liver TransplantLiver Transplant 3,000 Americans3,000 Americans $945 million$945 million

NosebleedsNosebleeds 54,000 Americans54,000 Americans Blood TransfusionBlood Transfusion

Dependent with AgeDependent with Age8,000 Americans8,000 Americans $192 million / year$192 million / year

TOTALS:TOTALS: One Time Cost:One Time Cost:

Annual Cost:Annual Cost:$ 6.5 billion$ 6.5 billion

$ 336 million$ 336 million

(Data from 18 Years of Yale HHT Center Statistics)

HHT Health Initiatives for the 21st CenturyHHT Health Initiatives for the 21st Century

The path to Atlanta………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

Familial EpistaxisFamilial Epistaxis

Henry Gawen Sutton, M.D.Henry Gawen Sutton, M.D.

Sutton HG: Medical Mirror: 1864 (London) 1, 769-781Sutton HG: Medical Mirror: 1864 (London) 1, 769-781

First report suggestive of HHTFirst report suggestive of HHT

Bull. Johns Hopkins Hospital: 1901, 12, 333-337Bull. Johns Hopkins Hospital: 1901, 12, 333-337

• Four patients with familial epistaxis Four patients with familial epistaxis and telangiectasias of the skin and and telangiectasias of the skin and mucus membranesmucus membranes

• Differentiation from hemophilia since Differentiation from hemophilia since bleeding occurred only from sites bleeding occurred only from sites with telangiectasiaswith telangiectasias

• Referenced articles of Babington Referenced articles of Babington and Renduand Rendu

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

HHT Foundation InternationalHHT Foundation InternationalMission: to find a cure for HHT while saving the lives and improving the Mission: to find a cure for HHT while saving the lives and improving the

well-being of individuals and families affected by HHT.well-being of individuals and families affected by HHT.

To achieve this mission, the HHT Foundation will:To achieve this mission, the HHT Foundation will:

Fund researchFund research to find better treatments and a cure. to find better treatments and a cure.

Educate families and physiciansEducate families and physicians about HHT so that awareness of crucial about HHT so that awareness of crucial diagnosis and available treatments prevents needless disability and death.diagnosis and available treatments prevents needless disability and death.

Provide linkages between people affected by HHT.Provide linkages between people affected by HHT.

Collaborate with multidisciplinary HHT Treatment Centers worldwideCollaborate with multidisciplinary HHT Treatment Centers worldwide while advocating for patient access to these Centers.while advocating for patient access to these Centers.

Advocate for and support those with HHTAdvocate for and support those with HHT while increasing public, private, and governmental awareness of the disorder.while increasing public, private, and governmental awareness of the disorder.

Engage the scientific and medical communityEngage the scientific and medical community so that talented individuals dedicate efforts toward advances in HHT screening, so that talented individuals dedicate efforts toward advances in HHT screening, diagnosis, treatment, and research.diagnosis, treatment, and research.

HHT Centers in North AmericaHHT Centers in North America

* Univ of California, San Diego

* Univ of Utah

* * OHSU

*Mayo Clinic

*Washington University

*Toronto*Toronto

* Univ of * Univ of PennsylvaniaPennsylvania

* Medical * Medical College of College of GeorgiaGeorgia

*Yale*Yale

HHT Foundation efforts have included creation of HHT Centers of HHT Foundation efforts have included creation of HHT Centers of Excellence and direction of HHT patients to these centersExcellence and direction of HHT patients to these centers

Patient Care ConferencesPatient Care ConferencesNational = 13National = 13 Regional = 3Regional = 3

International Scientific ConferencesInternational Scientific Conferences7 since 19967 since 1996

International diagnostic criteria consensus- 1997International diagnostic criteria consensus- 1997

Liver guidelines - 2005Liver guidelines - 2005

Other EffortsOther Efforts2 Hands-on Physician Training Programs2 Hands-on Physician Training Programs

Regional Network AlliancesRegional Network Alliances

International Clinical Guidelines ConferenceInternational Clinical Guidelines Conference

Facilitation of Genetic Testing in the USFacilitation of Genetic Testing in the US

7 research grants totaling $450,000; one leveraged a $1 7 research grants totaling $450,000; one leveraged a $1 million FDA grantmillion FDA grant

11 Young Investigator Grants11 Young Investigator Grants

HHT Language Reported by House and HHT Language Reported by House and Senate Appropriations Committee- FY 2008Senate Appropriations Committee- FY 2008

H.R. 3043, The Labor, HHS., Education and Related Agencies H.R. 3043, The Labor, HHS., Education and Related Agencies Appropriation Bill 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 S. 1710, The Labor, HHS., Education and Related Agencies Appropriation BillAppropriation BillThe 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.

HHT Health Initiatives for the 21st CenturyHHT Health Initiatives for the 21st Century

The path to Atlanta………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 Despite efforts to date, many persons with HHT remain undiagnosed and experience HHT remain undiagnosed and experience

significant morbidity and mortalitysignificant morbidity and mortality

HHT Health Initiatives for the 21st CenturyHHT Health Initiatives for the 21st Century

Specific Objectives of the ConferenceSpecific Objectives of the Conference

To define and prioritize strategies to:To define and prioritize strategies to:

1.1. Determine the prevalence of HHT in the United StatesDetermine the prevalence of HHT in the United States2.2. Disseminate HHT Evaluation and Treatment GuidelinesDisseminate HHT Evaluation and Treatment Guidelines3.3. Increase early detection and diagnosis of persons with HHTIncrease early detection and diagnosis of persons with HHT4.4. Form effective partnerships and collaborationsForm effective partnerships and collaborations5.5. Increase funding for care of persons with HHTIncrease funding for care of persons with HHT

HHT Health Initiatives for the 21st CenturyHHT Health Initiatives for the 21st Century

Conference agendaConference agenda

General sessionsGeneral sessionsOverview of HHT Screening and DiagnosisOverview of HHT Screening and DiagnosisHHT GuidelinesHHT GuidelinesSurveillance Approaches & StrategiesSurveillance Approaches & Strategies

WorkshopsWorkshopsSurveillance to determine prevalenceSurveillance to determine prevalenceDissemination of HHT GuidelinesDissemination of HHT GuidelinesEarly diagnosis and interventionEarly diagnosis and intervention

Workshop Summaries and Future DirectionsWorkshop Summaries and Future DirectionsRecommendations for Next steps - Group ConsensusRecommendations for Next steps - Group ConsensusPotential Funding Sources and First WinsPotential Funding Sources and First Wins

Roadmap for HHT Public Health Initiatives for the 21st CenturyRoadmap for HHT Public Health Initiatives for the 21st Century