I 

113TH CONGRESS 

2D SESSION H. R. 4592 

To amend the Public Health Service Act to improve the diagnosis and 

treatment of hereditary hemorrhagic telangiectasia, and for other purposes. 

IN THE HOUSE OF REPRESENTATIVES 

MAY 7, 2014 

Mr. GERLACH (for himself and Mr. HIMES) introduced the following bill; 

which was referred to the Committee on Energy and Commerce, and in 

addition to the Committee on Ways and Means, for a period to be subsequently determined by the Speaker, in each case for consideration of such 

provisions as fall within the jurisdiction of the committee concerned 

A BILL 

To amend the Public Health Service Act to improve the 

diagnosis and treatment of hereditary hemorrhagic 

telangiectasia, and for other purposes. 

1 Be it enacted by the Senate and House of Representa2 tives of the United States of America in Congress assembled, 

3 SECTION 1. SHORT TITLE. 

4 This Act may be cited as the ‘‘Hereditary Hemor5 rhagic Telangiectasia Diagnosis and Treatment Act of 

6 2014’’. 

7 SEC. 2. FINDINGS. 

8 The Congress finds as follows: 


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1 (1) Hereditary hemorrhagic telangiectasia 

2 (HHT) is a largely undiagnosed or misdiagnosed 

3 vascular genetic bleeding disorder resulting in ar4 tery-vein malformations (AVMs) which lead to pre5 ventable catastrophic and disabling consequences. 

6 HHT can cause sudden death at any age, unless de7 tected and treated. Early detection, screening, and 

8 use of readily available treatment can prevent pre9 mature deaths and long-term health complications 

10 resulting from HHT. A person with HHT has the 

11 tendency to form blood vessels that lack the cap12 illaries between an artery and vein. HHT often re13 sults in spontaneous hemorrhage or stroke from 

14 brain or lung AVM. In addition to hemorrhagic 

15 stroke, embolic stroke and brain abscess occur in ap16 proximately 30 percent of persons with HHT artery17 vein malformations in the lung (due to lack of cap18 illaries between the arterial and venous systems 

19 which normally filter out clots and bacteria). 

20 (2) One in 5,000 American children and adults 

21 suffer from HHT. 

22 (3) Studies have found an increase in morbidity 

23 and mortality rates for individuals who suffer from 

24 HHT. 


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1 (4) Due to the widespread lack of knowledge, 

2 accurate diagnosis, and appropriate intervention, 90 

3 percent of HHT-affected families are at risk for pre4 ventable life-threatening and disabling medical inci5 dents such as stroke. 

6 (5) Early detection, screening, and treatment 

7 can prevent premature deaths, spontaneous hemor8 rhage, hemorrhagic stroke, embolic stroke, brain ab9 scess, and other long-term health care complications 

10 resulting from HHT. 

11 (6) HHT is an important health condition with 

12 serious health consequences which are amenable to 

13 early identification and diagnosis with suitable tests, 

14 and acceptable and available treatments in estab15 lished treatment centers. 

16 (7) Timely identification and management of 

17 HHT cases is an important public health objective 

18 because it will save lives, prevent disability, and re19 duce direct and indirect health care costs expendi20 tures. A recent study has found use of a genetic 

21 testing model for HHT diagnosis saves $9.9 million 

22 in that screening can be limited to those persons 

23 within the family groups who actually have the gene 

24 defect, leading to early intervention in those found 

25 to have treatable AVMs. 


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1 (8) Without a new program for early detection, 

2 screening, and treatment, 14,000 children and 

3 adults who suffer from HHT in the population today 

4 will suffer premature death and disability. 

5 SEC. 3. PURPOSE. 

6 The purpose of this Act is to create a federally led 

7 and financed initiative for early diagnosis and appropriate 

8 treatment of hereditary hemorrhagic telangiectasia that 

9 will result in the reduction of the suffering of families, 

10 prevent premature death and disability, and lower health 

11 care costs through proven treatment interventions. 

12 SEC. 4. CENTERS FOR DISEASE CONTROL AND PREVEN13 TION. 

14 Part B of title III of the Public Health Service Act 

15 is amended by inserting after section 317T (42 U.S.C. 

16 247b–22) the following: 

17 ‘‘SEC. 317U. HEREDITARY HEMORRHAGIC 

18 TELANGIECTASIA. 

19 ‘‘(a) IN GENERAL.—With respect to hereditary hem20 orrhagic telangiectasia (in this section referred to as 

21 ‘HHT’), the Director of the Centers for Disease Control 

22 and Prevention (in this section referred to as the ‘Direc23 tor’) shall carry out the following activities: 

24 ‘‘(1) The conduct of population screening de25 scribed in subsection (c). 


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1 ‘‘(2) The identification and conduct of inves2 tigations to further develop and support guidelines 

3 for diagnosis of, and intervention for, HHT, includ4 ing cost-benefit studies. 

5 ‘‘(3) The development of a standardized survey 

6 and screening tool on family history. 

7 ‘‘(4) The establishment, in collaboration with a 

8 voluntary health organization representing HHT 

9 families, of an HHT resource center within the Cen10 ters for Disease Control and Prevention to provide 

11 comprehensive education on, and disseminate infor12 mation about, HHT to health professionals, pa13 tients, industry, and the public. 

14 ‘‘(5) The conduct or support of public aware15 ness programs in collaboration with medical, genetic, 

16 and professional organizations to improve the edu17 cation of health professionals about HHT. 

18 ‘‘(b) COLLABORATIVE APPROACHES.—The Director 

19 shall carry out this section through collaborative ap20 proaches within the National Center on Birth Defects and 

21 Developmental Disabilities and the Division for Heart Dis22 ease and Stroke Prevention of the Centers for Disease 

23 Control and Prevention for clotting and bleeding dis24 orders. 


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1 ‘‘(c) POPULATION SCREENING.—In carrying out pop2 ulation screening under subsection (a)(1), the Director 

3 shall— 

4 ‘‘(1) designate and provide funding for a suffi5 cient number of HHT Treatment Centers of Excel6 lence to improve patient access to information, treat7 ment, and care by HHT experts; 

8 ‘‘(2) conduct surveillance by means of a popu9 lation study, supplemented by sentinel health care 

10 provider or center surveillance, and by administra11 tive database analyses as useful, to accurately iden12 tify— 

13 ‘‘(A) the prevalence of HHT; and 

14 ‘‘(B) the prevalence of hemorrhagic and 

15 embolic stroke, and brain abscess, resulting 

16 from HHT; 

17 ‘‘(3) include HHT screening questions in the 

18 Behavioral Risk Factor Surveillance System survey 

19 conducted by the Centers for Disease Control and 

20 Prevention in order to screen a broader population 

21 and more accurately determine the prevalence of 

22 HHT; 

23 ‘‘(4) provide data collected under paragraph 

24 (2)(B) to the Paul Coverdell National Acute Stroke 

25 Registry to facilitate— 


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1 ‘‘(A) analyses of the natural history of 

2 hemorrhagic and embolic stroke in HHT; and 

3 ‘‘(B) development of screening and artery4 vein malformation treatment guidelines specific 

5 to prevention of complications from HHT; 

6 ‘‘(5) develop and implement programs, targeted 

7 for physicians and health care professional groups 

8 likely to be accessed by families with HHT, to in9 crease HHT diagnosis and treatment rates through 

10 the— 

11 ‘‘(A) establishment of a partnership with 

12 HHT Treatment Centers of Excellence des13 ignated under paragraph (1) through the cre14 ation of a database of patients assessed at such 

15 HHT Treatment Centers of Excellence (includ16 ing with respect to phenotype information, gen17 otype information, transfusion dependence, and 

18 radiological findings); 

19 ‘‘(B) integration of such database with— 

20 ‘‘(i) the universal data collection sys21 tem used by the Centers for monitoring he22 mophilia with the blood disorders; and 

23 ‘‘(ii) the Paul Coverdell National 

24 Acute Stroke Registry; and 


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1 ‘‘(C) inclusion of other medical providers 

2 who treat HHT patients; and 

3 ‘‘(6) use existing administrative databases on 

4 non-HHT Treatment Centers of Excellence pa5 tients— 

6 ‘‘(A) to learn about the natural history of 

7 HHT and the efficacy of various treatment mo8 dalities; and 

9 ‘‘(B) to better inform and develop screen10 ing and treatment guidelines associated with 

11 improvement in health care outcomes, and re12 search priorities relevant to HHT. 

13 ‘‘(d) ELIGIBILITY FOR DESIGNATION AS AN HHT 

14 TREATMENT CENTER OF EXCELLENCE.—In carrying out 

15 subsection (c)(1), the Director may designate, as an HHT 

16 Treatment Center of Excellence, academic health centers 

17 demonstrating each of the following: 

18 ‘‘(1) The academic health center possesses a 

19 team of medical experts capable of providing com20 prehensive evaluation, treatment, and education to 

21 individuals with known or suspected HHT and their 

22 health care providers. 

23 ‘‘(2) The academic health center has sufficient 

24 personnel with knowledge about HHT, or formal colVerDate Mar 15 2010 04:10 May 13, 2014 Jkt 039200 PO 00000 Frm 00008 Fmt 6652 Sfmt 6201 E:\BILLS\H4592.IH H4592

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1 laboration with one or more partnering organizations 

2 for personnel or resources, to be able to— 

3 ‘‘(A) respond in a coordinated, multidisci4 plinary way to patient inquiries; and 

5 ‘‘(B) coordinate evaluation, treatment, and 

6 education of patients and their families in a 

7 timely manner. 

8 ‘‘(3) The academic health center has the fol9 lowing personnel, facilities, and patient volume: 

10 ‘‘(A) A medical director with— 

11 ‘‘(i) specialized knowledge of the main 

12 organ manifestations of HHT; and 

13 ‘‘(ii) the ability to coordinate the mul14 tidisciplinary diagnosis and treatment of 

15 patients referred to the center. 

16 ‘‘(B) Administrative staff with— 

17 ‘‘(i) sufficient knowledge to respond to 

18 patient inquiries and coordinate patient 

19 care in a timely fashion; and 

20 ‘‘(ii) adequate financial support to 

21 allow the staff to commit at least 25 to 50 

22 percent of their time on the job to HHT. 

23 ‘‘(C) An otolaryngologist with experience 

24 and expertise in the treatment of recurrent epi25 staxis in HHT patients. 


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1 ‘‘(D) An interventional radiologist with ex2 perience and expertise in the treatment of pul3 monary arteriovenous malformations (AVM). 

4 ‘‘(E) A genetic counselor or geneticist with 

5 the expertise to provide HHT-specific genetic 

6 counseling to patients and families. 

7 ‘‘(F) On-site facilities to screen for all 

8 major organ manifestations of HHT. 

9 ‘‘(G) A patient volume of at least 25 new 

10 HHT patients per year. 

11 ‘‘(H) Established mechanisms to coordi12 nate surveillance and outreach with HHT pa13 tient advocacy organizations.’’. 

14 SEC. 5. ADDITIONAL HEALTH AND HUMAN SERVICES AC15 TIVITIES. 

16 With respect to hereditary hemorrhagic telangiectasia 

17 (in this section referred to as ‘‘HHT’’), the Secretary of 

18 Health and Human Services, acting through the Adminis19 trator of the Centers for Medicare & Medicaid Services, 

20 shall award grants on a competitive basis— 

21 (1) for an analysis by grantees of the Medicare 

22 Provider Analysis and Review (MEDPAR) file to de23 velop preliminary estimates from the Medicare pro24 gram under title XVIII of the Social Security Act 

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1 tures including items, services, and treatments asso2 ciated with untreated HHT furnished to individuals 

3 with HHT, as well as socioeconomic costs such as 

4 disability expenditures associated with preventable 

5 medical events in this population, who are entitled to 

6 benefits under part A of title XVIII of the Social Se7 curity Act or enrolled under part B of such title; and 

8 (2) to make recommendations regarding an en9 hanced data collection protocol to permit a more 

10 precise determination of the total costs described in 

11 paragraph (1). 

12 SEC. 6. NATIONAL INSTITUTES OF HEALTH. 

13 Part B of title IV of the Public Health Service Act 

14 (42 U.S.C. 284 et seq.) is amended by adding at the end 

15 the following: 

16 ‘‘SEC. 409K. HEREDITARY HEMORRHAGIC TELANGIECTASIA. 

17 ‘‘(a) HHT INITIATIVE.— 

18 ‘‘(1) ESTABLISHMENT.—The Secretary shall es19 tablish and implement an HHT initiative to assist in 

20 coordinating activities to improve early detection, 

21 screening, and treatment of people who suffer from 

22 HHT. Such initiative shall focus on— 

23 ‘‘(A) advancing research on the causes, di24 agnosis, and treatment of HHT, including 


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1 through the conduct or support of such re2 search; and 

3 ‘‘(B) increasing physician and public 

4 awareness of HHT. 

5 ‘‘(2) CONSULTATION.—In carrying out this sub6 section, the Secretary shall consult with the Director 

7 of the National Institutes of Health and the Director 

8 of the Centers for Disease Control and Prevention. 

9 ‘‘(b) HHT COORDINATING COMMITTEE.— 

10 ‘‘(1) ESTABLISHMENT.—Not later than 60 days 

11 after the date of the enactment of this section, the 

12 Secretary, in consultation with the Director of the 

13 National Institutes of Health, shall establish a com14 mittee to be known as the HHT Coordinating Com15 mittee. 

16 ‘‘(2) MEMBERSHIP.— 

17 ‘‘(A) IN GENERAL.—The members of the 

18 Committee shall be appointed by the Secretary, 

19 in consultation with the Director of the Na20 tional Institutes of Health, and shall consist of 

21 12 individuals who are experts in HHT or 

22 arteriovenous malformation (AVM) as follows: 

23 ‘‘(i) Four representatives of HHT 

24 Treatment Centers of Excellence des25 ignated under section 317U(c)(1). 


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1 ‘‘(ii) Four experts in vascular, molec2 ular, or basic science. 

3 ‘‘(iii) Four representatives of the Na4 tional Institutes of Health. 

5 ‘‘(B) CHAIR.—The Secretary shall des6 ignate the Chair of the Committee from among 

7 its members. 

8 ‘‘(C) INTERIM MEMBERS.—In place of the 

9 4 members otherwise required to be appointed 

10 under subparagraph (A)(i), the Secretary may 

11 appoint 4 experts in vascular, molecular, or 

12 basic science to serve as members of the Com13 mittee during the period preceding designation 

14 and establishment of HHT Treatment Centers 

15 of Excellence under section 317U. 

16 ‘‘(D) PUBLICATION OF NAMES.—Not later 

17 than 30 days after the establishment of the 

18 Committee, the Secretary shall publish the 

19 names of the Chair and members of the Com20 mittee on the Website of the Department of 

21 Health and Human Services. 

22 ‘‘(E) TERMS.—The members of the Com23 mittee shall each be appointed for a 3-year term 

24 and, at the end of each such term, may be re25 appointed. 


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1 ‘‘(F) VACANCIES.—A vacancy on the Com2 mittee shall be filled by the Secretary in the 

3 same manner in which the original appointment 

4 was made. 

5 ‘‘(3) RESPONSIBILITIES.—The Committee shall 

6 develop and coordinate implementation of a plan to 

7 advance research and understanding of HHT by— 

8 ‘‘(A) conducting or supporting basic, 

9 translational, and clinical research on HHT 

10 across the relevant national research institutes, 

11 national centers, and offices of the National In12 stitutes of Health, including the National 

13 Heart, Lung, and Blood Institute; the National 

14 Institute of Neurological Disorders and Stroke; 

15 the National Institutes of Diabetes and Diges16 tive and Kidney Diseases; the Eunice Kennedy 

17 Shriver National Institute of Child Health and 

18 Human Development; the National Cancer In19 stitute; and the Office of Rare Diseases; and 

20 ‘‘(B) conducting evaluations and making 

21 recommendations to the Secretary, the Director 

22 of the National Institutes of Health, and the 

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1 lating to HHT, including with respect to grants 

2 for— 

3 ‘‘(i) expanding understanding of HHT 

4 through basic, translational, and clinical 

5 research on the cause, diagnosis, preven6 tion, control, and treatment of HHT; 

7 ‘‘(ii) training programs on HHT for 

8 scientists and health professionals; and 

9 ‘‘(iii) HHT genetic testing research to 

10 improve the accuracy of genetic testing. 

11 ‘‘(c) DEFINITIONS.—In this section: 

12 ‘‘(1) The term ‘Committee’ means the HHT 

13 Coordinating Committee established under sub14 section (b). 

15 ‘‘(2) The term ‘HHT’ means hereditary hemor16 rhagic telangiectasia.’’. 

17 SEC. 7. AUTHORIZATION OF APPROPRIATIONS. 

18 (a) IN GENERAL.—To carry out section 317U of the 

19 Public Health Service Act as added by section 4 of this 

20 Act, section 5 of this Act, and section 409K of the Public 

21 Health Service Act as added by section 6 of this Act, there 

22 is authorized to be appropriated $5,000,000 for each of 

23 fiscal years 2015 through 2019. 

24 (b) RESOURCE CENTER.—Of the amount authorized 

25 to be appropriated under subsection (a) for each of fiscal 


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1 years 2015 through 2019, $1,000,000 shall be for car2 rying out section 317U(a)(4) of the Public Health Service 

3 Act, as added by section 4 of this Act. 

4 (c) OFFSET.—There is authorized to be appropriated 

5 to the Department of Health and Human Services for sal6 aries and expenses of the Department for each of fiscal 

7 years 2015 through 2019 the amount that is $5,000,000 

8 less than the amount appropriated for such salaries and 

9 expenses for fiscal year 2014. 

Æ 


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