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The patient's experience of primary ciliary dyskinesia: a systematic review
Laura Behan1,2, Bruna Rubbo3, Jane S Lucas3,4
1Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK. l.behan@soton.ac.uk.
Insights
Primary ciliary dyskinesia (PCD) significantly impacts patients' quality of life, with physical, social, and emotional well-being declining with age. Understanding these effects is crucial for better patient support and care.
Area of Science:
- Medical Genetics
- Pulmonology
- Quality of Life Research
Background:
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder causing progressive sinopulmonary disease.
- Symptoms manifest early in life, significantly affecting patients' daily functioning.
Purpose of the Study:
- To synthesize existing literature on patient experiences with PCD.
- To analyze the impact of PCD on health-related quality of life (HRQoL).
Main Methods:
- A systematic literature review was conducted.
- Qualitative analysis of 14 studies, including five qualitative methodologies.
- Searches across major databases: MEDLINE, EBSCO, CINAHL, PsycINFO, EMBASE.
Main Results:
- HRQoL declines with age in PCD patients, more so than in general populations.
- PCD causes significant physical limitations, social isolation, and emotional distress (anxiety).
- Patients experience treatment burden, with variations in HRQoL noted between countries (UK vs. Italy).
Conclusions:
- PCD negatively impacts physical, emotional, and social functioning across all age groups.
- Disease burden and treatment adherence are significant concerns for PCD patients.
- Further research into the psychosocial aspects and long-term quality of life impact of PCD is warranted.
Background:
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sinopulmonary disease, with symptoms starting soon after birth. The aim of this study is to critically review, analyse, and synthesise the literature in order to understand the experiences of patients with primary ciliary dyskinesia (PCD) and the impact on health-related quality of life.
Method:
MEDLINE, EBSCO, Cumulative Index to Nursing and Allied Health Literature (CINAHL), PsycINFO and EMBASE were searched according to the inclusion criteria. A qualitative analysis of 14 studies was conducted.
Results:
Fourteen studies were included in the review, five with qualitative methodologies. Studies originated from the UK, USA, Italy, Denmark and Belgium, one study included a survey distributed internationally. Significant relationships were found between age and worsening of respiratory symptoms, physical, and mental domains of health-related quality of life, with a greater decline compared with reference populations. Variations between the UK and Italy were found for health-related quality of life and its correlation with time since diagnosis. PCD was found to have a physical impact in all age groups: patients found it difficult to keep up with others, and found energy levels were easily depleted compared to family or peers. In terms of social impact, symptoms lead to embarrassment and a sense of isolation, with patients concealing symptoms and/or their diagnosis. In turn, isolation was also linked with the lack of public and medical knowledge. In relation to emotional impact, anxiety was reported in a number of qualitative studies; patients were anxious about getting sick or when thinking about their future health. The burden of treatment and factors influencing adherence were also discussed in depth.
Conclusion:
Health-related quality of life decreases with age in patients with PCD. For all age groups, PCD was found to greatly impact physical, emotional, social functioning, and treatment burden. More research is needed on the psychosocial impact of the illness, disease burden and its effect on quality of life.