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Patients’ Perceptions and Experiences of Familial Hypercholesterolemia, Cascade Genetic Screening and Treatment

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Abstract

Background

Familial hypercholesterolemia (FH) is a serious genetic disorder affecting approximately 1 in every 300 to 500 individuals and is characterised by excessively high low-density lipoprotein (LDL) cholesterol levels, substantially increased risk of early-onset coronary heart disease (CHD) and premature mortality. If FH is untreated, it leads to a greater than 50 % risk of CHD in men by the age of 50 and at least 30 % in women by the age of 60. FH can be diagnosed through genetic screening and effectively managed through pharmacological treatment and lifestyle changes.

Purpose

Familial hypercholesterolemia (FH) is a genetic health condition that increases the risk of cardiovascular disease. Although FH can be effectively managed with appropriate pharmacological and dietary interventions, FH detection rate through genetic screening remains low. The present study explored perceptions and experiences of FH patients (N = 18) involved in a genetic cascade screening programme.

Methods

Face-to-face interviews were conducted to assess patients’ knowledge and understanding of FH, explore factors linked to adherence to health-protective behaviours and examine perceptions of genetic screening.

Results

Thematic analysis of interviews revealed four themes: disease knowledge, severity of FH, lifestyle behavioural change and barriers to cascade screening and treatment. Participants recognised FH as a permanent, genetic condition that increased their risk of CHD and premature mortality. Many participants dismissed the seriousness of FH and the importance of lifestyle changes because they perceived it to be effectively managed through medication. Despite positive attitudes toward screening, many participants reported that relatives were reluctant to attend screening due to their relatives’ ‘fatalistic’ outlook or low motivation. Participants believed that they had insufficient authority or control to persuade family members to attend screening and welcomed greater hospital assistance for contact with relatives.

Conclusions

Findings support the adoption of direct methods of recruitment to cascade screening led by medical professionals, who were perceived as having greater authority. Other implications included the need for clinicians to provide clear information, particularly to those who are asymptomatic, related to the seriousness of FH and the necessity for adherence to medication and lifestyle changes.

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Notes

  1. All quotes are matched to participants by gender (F for female; M for male), followed by age and classification (Index or Relative); for example, a 40-year-old male index case would be M, 40, I.

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Acknowledgement

This research was conducted in partial fulfilment of the Bachelor of Psychology (Honours) degree from Curtin University for Chris Laundy and Ellen Legge. We thank all the participants who took part in the study and the consultants from the Lipid Disorders Clinic at Royal Perth Hospital for their assistance with the project. In particular, we would like to extend our gratitude to Lynda Southwell and the nursing staff who were involved in patient recruitment.

Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (Curtin University Health Research Ethics Committee and National Health and Medical Research Council guidelines) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Conflict of Interest

Sarah J. Hardcastle, Chris Laundy, Ellen Legge, Sarah J. Egan, Rosemary French, Gerald F. Watts, and Martin S. Hagger declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. School of Sport and Service Management, University of Brighton, Denton Road, Eastbourne, East Sussex, BN20 7SP, UK

    Sarah J. Hardcastle

  2. Health Psychology and Behavioural Medicine Research Group, School of Psychology and Speech Pathology, Faculty of Health Sciences, Curtin University, GPO Box U1987, Perth, WA, 6845, Australia

    Ellen Legge, Chris S. Laundy, Sarah J. Egan & Martin S. Hagger

  3. Department of Psychiatry, Royal Perth Hospital, 50 Murray Street, Perth, WA, 6000, Australia

    Rosemary French

  4. The Metabolic Research Centre and Lipid Disorders Clinic, Royal Perth Hospital and the School of Medicine and Pharmacology, The University of Western Australia, Perth, Australia

    Gerald F. Watts

Authors
  1. Sarah J. Hardcastle
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  2. Ellen Legge
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Correspondence to Martin S. Hagger.

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Hardcastle, S.J., Legge, E., Laundy, C.S. et al. Patients’ Perceptions and Experiences of Familial Hypercholesterolemia, Cascade Genetic Screening and Treatment. Int.J. Behav. Med. 22, 92–100 (2015). https://doi.org/10.1007/s12529-014-9402-x

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  • DOI: https://doi.org/10.1007/s12529-014-9402-x

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