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Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia

This study has been completed.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) Identifier:
First received: May 24, 2008
Last updated: April 19, 2017
Last verified: January 7, 2016

This study will explore the factors that influence screening behaviors of adults diagnosed with hereditary hemorrhagic telangiectasia (HHT), an inherited condition in which blood vessel defects called arteriovenous malformations (AVMs) result in direct connections between arteries and veins. Patients most commonly have small AVMs called telangiectases on the tongue, face, hands, mouth, and throat and the mucosal linings of the nose and gastrointestinal tract. Recurrent nosebleeds are a hallmark of the disease. Large AVMs can also occur in various organs, causing sudden and life-threatening complications.

The study will examine how patients think and feel about their condition and what actions they take to screen for internal symptoms of the disease.

Men and women 18 years of age and older who have HHT may be eligible for this study. Participants fill out a 30-minute questionnaire, available in print or online, that includes questions about the participant s

  • beliefs about HHT
  • actions taken to screen for internal symptoms of HHT
  • experience with HHT
  • current health status, family history and demographic information

Osler-Rendu-Weber Disease
Osler-Rendu Disease
Telangiectasia, Hereditary Hemorrhagic

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Illness Perceptions and the Health Belief Model: Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 320
Study Start Date: May 21, 2008
Estimated Study Completion Date: January 7, 2016
Detailed Description:
The proposed study aims to understand the factors that influence screening behaviors of adults with hereditary hemorrhagic telangiectasia (HHT). HHT is a chronic condition, but with early diagnosis followed by adherence to recommended screening guidelines, the major complications of this disorder can be avoided and disability or even death can be prevented. Yet, it has come to the attention of healthcare professionals that the recommended screening is not commonly followed by individuals with HHT, even when the risk of serious complications is known. Nonadherence to screening recommendations is not unique to HHT. It is rather common across chronic conditions, and genetic diseases, such as HHT, are no exception. However, HHT may have an added barrier to screening and treatment adherence in that it is a rare and underdiagnosed condition. Inadequate knowledge of healthcare providers may be a serious barrier to prevention, diagnosis, and treatment. The Health Belief Model (HBM) can be used to frame this study of HHT screening. The HBM posits that preventive health behaviors will be acted upon if individuals regard themselves as susceptible to the threat, they believe the consequences to be severe, and the perceived benefits outweigh the perceived barriers. In addition to the HBM constructs, this study will also consider the role of illness representations which provide a more personal view of the lived experience of individuals with HHT. A cosss-sectional design will be used to investigate the relationships among the domains of illness representations, HBM constructs (perceived susceptibility, perceived benefits, barriers, self-efficacy, response efficacy, cues to action), and HHT-specific screening guidelines. Participants will be recruited from the HHT Foundation International, Inc., an outline HHT Awareness social group, and HHT Clinics. Participants will be asked to complete either a web-based or a paper survey. The main outcome measure is screening behaviors and intentions to screen for complications associated with HHT.

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Men and women who self-report having a diagnosis of HHT.

To read and write English.


Individuals younger than 18.

  Contacts and Locations
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Please refer to this study by its identifier: NCT00684879

United States, Maryland
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Principal Investigator: Barbara B Biesecker National Human Genome Research Institute (NHGRI)
  More Information

Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT00684879     History of Changes
Other Study ID Numbers: 999908143
Study First Received: May 24, 2008
Last Updated: April 19, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Hereditary Hemorrhagic Telangiectasia
Health Belief Model
Illness Perceptions

Additional relevant MeSH terms:
Telangiectasia, Hereditary Hemorrhagic
Vascular Diseases
Cardiovascular Diseases
Hemostatic Disorders
Hemorrhagic Disorders
Hematologic Diseases
Vascular Malformations
Cardiovascular Abnormalities
Congenital Abnormalities processed this record on April 26, 2017