High prevalence of anxiety and depression in patients with rare diseases in the UK Biobank: exploring the impact of pain and physical wellbeing

Rare diseases (RDs), while individually rare (<1 in 2,000), are collectively common, with approximately 6,000 RDs affecting up to 36 million people across the European Union. RD patients report negative mental health and quality-of-life impacts. Scope existed to explore RDs across a population cohort and compare outcomes between individuals with RDs, common diseases (CDs) or no diagnoses (ND).

Harnessing the UK Biobank (UKB) (n=502,401), ICD10 codes were aligned with the Orphanet Knowledge base to categorise individuals with RDs, CDs or ND. Mental health (professional informed about anxiety/depression), physical activity (types last month), pain (types last month/general pain for 3+ months) and general happiness were assessed. Disease category- and sex-stratified analyses were carried out. Results from two-sample proportion tests (between RD and ND) are described.

A significantly higher proportion of RD patients had informed a professional about anxiety (p<0.0001, effect=0.29) or depression (p<0.0001, effect=0.22), with a larger difference observed in females. Significant differences in physical activity were observed across categories, with more RD patients opting for DIY (p<0.0001, effect=0.07-0.12), and less walking for pleasure (p<0.0001, effect=-0.15) or strenuous sports (p<0.0001, effect=-0.05), compared to ND individuals. General pain (p<0.0001, effect=0.76) and extreme unhappiness (p=0.0026, effect=0.03) significantly increased in RD.

This study compares lifestyle and health across RD, CD and ND in the UKB, revealing an increased burden on RD sufferers. Such insights can guide the development of support for patients and their families.