Anxiety and depression is common in individuals living with a rare disease: exploring the impact of pain and physical activity in UK Biobank data

Background Whilst individually rare, affecting less than 1 in 2,000 people, together rare diseases (RDs) affect an estimated 475 million people globally, including 4 million people within the UK. RDs are often associated with unmet care needs, which can impact both physical and mental health. Harnessing the UK Biobank, health and wellbeing data from 502,401 individuals over the age of 40 was assessed. Using the Orphanet database for rare diseases and International Classification of Diseases Codes 10 (ICD10) from the UK Biobank, participants were classified as having no diagnosis, non-rare diagnoses only, or a rare diagnosis with or without comorbidities. Results Mental health, pain, physical wellbeing, and comorbidity measures were compared between these three groups. Depression and anxiety was significantly more common in those living with a rare disease (67% and 65%, respectively) compared to non-rare diagnoses (NRD) (p < 4x10 ^-7 ). Depression and anxiety was more common in females compared to males across all groups (p < 0.009). Individuals living with a RD experienced significantly more general pain (p < 3x10 ^-28 ), and reported significantly reduced physical activity (p < 3x10 ^-44 ), compared to NRD. A higher proportion of individuals living with a RD also presented a higher comorbidity burden, when compared to individuals living with NRD (NRD: Median number of comorbidities = 5, IQR = 3-10, RD: Median number of comorbidities = 17, IQR = 10-29). Conclusion This study reveals a significant burden of disease diagnosis, which is further exacerbated by a rare disease diagnosis. This work highlights the need for novel support mechanisms to target the specific needs of patients living with a RD, with careful consideration of gender-specific influences.