Background & Aims

Rare diseases, affecting 3.5-5.9% of the global population (Nguengang et al., 2020), present intricate challenges, including chronic pain in many instances. Limited healthcare awareness, inadequate treatment, and persistent pain characterize the unique experiences of this population (Sieberg et al., 2021). However, chronic pain has been scarcely investigated in the context of rare diseases. Pain extends beyond sensory perception, involving emotional, social, and cognitive components (IsHak et al., 2018). Maladaptive emotion-regulation can exacerbate pain, contributing to diminished mental and physical health (Elman & Brosook, 2018; Koechlin et al., 2018). Recognizing pain’s complexity necessitates a biopsychosocial approach, informing tailored care. This study sought to identify profiles based on pain, emotion-regulation, and quality of life indicators in patients with rare diseases. We subsequently explored associations with sociodemographic and disease-specific factors.

Methods

Participants with a rare disease diagnosis who reported experiencing pain in the last three months or longer (20-80 years, N = 193), took part in this online cross-sectional survey. Data encompassed pain intensity (numerical ratings, Brief Pain Inventory, BPI, Cleeland & Ryan, 1994), pain-related interference (as measured by the BPI), catastrophizing (short-form Pain Catastrophizing Scale, McWilliams et al., 2015), emotion regulation (Emotion Regulation Questionnaire, Gross & John, 2003), and health-related quality of life (12 item Short-Form health survey, SF-12, Ware et al., 1996). The SF-12 results in two subscales, mental health-related quality of life, and physical health-related quality of life. Profiles were identified through latent profile analysis using all the variables listed beforehand (Oberski, 2016). Subsequently, Chi-square tests and analysis of variance (ANOVA) were employed to compare classes in relation to sociodemographic and disease-specific factors.

Results

Latent profile analysis identified five classes. In Class 1 (n = 45), participants exhibited low pain severity and interference, adaptive emotion regulation, high mental health-related quality of life score, but a low physical score. Class 2 (n = 35) was characterized by high pain intensity and interference, maladaptive emotion regulation, and a low quality of life across both domains. Class 3 (n = 20) displayed low pain intensity and interference, maladaptive emotion regulation, low mental quality of life score, but a high physical score. Class 4 (n = 28) featured high pain intensity and interference, adaptive emotion regulation, high mental quality of life score, but a low physical score. Lastly, Class 5 (n = 65) demonstrated low pain intensity and interference, adaptive emotion regulation, and high quality of life across both domains. Class 3 had a higher rate of unemployment, lived alone and had an unstable disease course (p = .001), the latter also being the case for class 5.

Conclusions

In conclusion, our study addressed the understudied intersection of chronic pain, emotion regulation, and quality of life in individuals with rare diseases. We identified five distinct profiles characterized by variations in pain severity and interference, emotion regulation, and health-related quality of life. These profiles provide a nuanced understanding of the diverse experiences within the rare disease population. Notably, we observed significant associations between these profiles and sociodemographic factors, emphasizing the importance of considering individual differences in pain management.

References

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Presenting Author

Susanne Wehrli

Poster Authors

Susanne Wehrli

Master of Science Psychology

University of Zurich & University Children's Hospital Zurich

Lead Author

Christine Sieberg

PhD

Massachusetts General Hospital & Harvard Medical School

Lead Author

Helen Koechlin

PhD

University of Zurich & University Children's Hospital Zurich

Lead Author

Markus Landolt

PhD

University of Zurich & University Children's Hospital Zurich

Lead Author

Topics

  • Pain in Special Populations: Intellectual, Developmental, and Functional Disability