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Life experiences of individuals with hereditary hemorrhagic telangiectasia and disclosing outside the family: a qualitative analysis

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Abstract

Hereditary hemorrhagic telangiectasia (HHT; OMIM 187300) is a disorder that affects 1:5000–1:10,000 people worldwide, with an estimated 60,000 affected individuals in the USA. Approximately 50 % of patients with HHT experience potentially life-threatening health complications such as stroke, brain abscess, or heart failure. However, the most common symptom is spontaneous and frequent nosebleeding. HHT is a hereditary condition with significant health consequences, but little is known about how individuals cope with HHT on a daily basis and how individuals share information about the disorder with social groups outside of the family. The objectives of this study were to improve understanding of the daily experiences of patients with diagnosed HHT and to investigate how they disclose their diagnosis to various social groups (friends, dating partners, employers, and coworkers) outside of their biological family. Adult patients seen at a university HHT clinic and who had been diagnosed with HHT for at least 6 months were recruited by mail. Participants completed semi-structured telephone interviews (n = 19). A qualitative content analysis of interview transcripts identified four major categories: (1) the emotional impact of HHT, (2) the social impact of HHT, (3) concerns for current and future health related to HHT, and (4) social context drives disclosure of HHT. Participants reported that although HHT was a manageable hereditary disorder, the symptoms negatively affected their daily life. It is important for health care providers to understand how individuals with rare genetic disorders are managing.

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Acknowledgments

The authors would like to thank the study participants, the University of Utah HHT Clinic, and the University of Utah Graduate Program in Genetic Counseling for their support; Kali Roy for piloting the interview guide; and Connie Larrinaga-Pope for assistance with disbursement of study funds.

Compliance with ethics guidelines

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Conflict of interest

The authors declare that they have no competing interests.

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Authors and Affiliations

  1. Graduate Program in Genetic Counseling, University of Utah, 10 South 2000 East, Salt Lake City, UT, 84112, USA

    Leigh Ann Higa & Erin Rothwell

  2. Department of Radiology, University of Utah, Salt Lake City, UT, USA

    Jamie McDonald

  3. College of Nursing, Brigham Young University, Provo, UT, USA

    Jamie McDonald & Deborah O. Himes

  4. College of Nursing, University of Utah, Salt Lake City, UT, USA

    Erin Rothwell

Authors
  1. Leigh Ann Higa
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  2. Jamie McDonald
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  3. Deborah O. Himes
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  4. Erin Rothwell
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Correspondence to Erin Rothwell.

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Higa, L.A., McDonald, J., Himes, D.O. et al. Life experiences of individuals with hereditary hemorrhagic telangiectasia and disclosing outside the family: a qualitative analysis. J Community Genet 7, 81–89 (2016). https://doi.org/10.1007/s12687-015-0254-0

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  • DOI: https://doi.org/10.1007/s12687-015-0254-0

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