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Hereditary hemorrhagic telangiectasia and health-related quality of life: a qualitative investigation

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Abstract

Objective

The purpose of the study was to arrive at an accurate description of health-related quality of life of hereditary hemorrhagic telangiectasia patients.

Methods

Thirteen semi-structured interviews were conducted in patients with hereditary hemorrhagic telangiectasia.

Results

Qualitative grounded theory analyses were performed using the participants’ transcripts and revealed the following six categories: Impact of physical symptoms on daily life, Quality of family and social life, Emotional and psychological outcomes related to the disease, Knowledge having a severe disease and coping strategies to manage such disease, Recognition of the disease by professional colleagues and superiors, and Knowledge and understanding from health professionals in medical care.

Conclusion

The definition of quality of life that emerged from the participants’ transcripts was essentially related to health. Individuals with hereditary hemorrhagic telangiectasia mainly focused on the physical, psychological and emotional impacts of the symptoms and their consequences on professional life and social activities. Family relationships were also highlighted in the participants’ transcripts. As such, HHT patients used coping strategies to manage their disease. Finally, a particularly salient issue referred to the lack of knowledge concerning the rare nature of this disease and the ensuing inherent sense of misunderstanding.

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Author information

Authors and Affiliations

  1. Laboratoire sur les vulnérabilités et l’innovation Dans Le Sport (EA 7428), Université de Lyon, Claude Bernard Lyon 1, Lyon, France

    Guillaume Martinent

  2. Département de Psychologie du Développement, de l’Éducation et des Vulnérabilités (PsyDÉV), Institut de Psychologie, Université Lumière Lyon 2, Lyon, France

    Manon Carrot & Anne Chirac

  3. Unité de Génétique Clinique, Service de Génétique et Centre de Référence sur la maladie de Rendu-Osler, Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Bâtiment A1, 59, bd Pinel, 69677, Bron Cedex, France

    Sophie Dupuis-Girod, Anne-Emmanuelle Fargeton & Sylvie Fourdrinoy

  4. Laboratoire DIPHE (Développement, Individu, Processus, Handicap, Éducation), équipe émergente universitaire, Université de Lyon, Lyon, France

    Stéphanie Blois Da Conceição

Authors
  1. Guillaume Martinent
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  2. Manon Carrot
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  6. Stéphanie Blois Da Conceição
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  7. Sylvie Fourdrinoy
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Corresponding author

Correspondence to Sylvie Fourdrinoy.

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Conflict of interest

No potential conflict of interest is reported by the authors.

Ethical approval

This non-interventional study was conducted in accordance with international ethical guidelines consistent with the American Psychological Association norms and the Declaration of Helsinki. Agreement from the National Commission for Liberties and Data Protection (Commission Nationale de l’Informatique et des Libertés, CNIL) was obtained. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and national research committee (CNIL 1814564 v 0) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study. The participation was voluntary, and written informed consent was obtained from each individual prior to data collection.

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Martinent, G., Carrot, M., Chirac, A. et al. Hereditary hemorrhagic telangiectasia and health-related quality of life: a qualitative investigation. Qual Life Res 29, 1291–1299 (2020). https://doi.org/10.1007/s11136-020-02415-7

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  • DOI: https://doi.org/10.1007/s11136-020-02415-7

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