Employment and work ability in individuals living with rare diseases: a systematic literature review

Background The socioeconomic impact of rare diseases has been mostly studied at the macrolevel, but evidence
at the microlevel is lacking, which overshadows health-related social inequalities affecting people with rare diseases,
namely, health selection effects.
Aim This study presents an overview of employment and work ability in individuals living with rare diseases, two factors
related to health selection effects.
Methods A systematic literature review was conducted using the PRISMA checklist. Three electronic databases, Pub-
Med, Embase, and Web of Science, were searched from 2013 to 2023. Eligible studies needed to investigate at least
one work-related outcome measuring employment or work ability in individuals living with rare diseases and to compare
it with a control group. Indeed, including only studies with matched or standardized control groups is essential
for ensuring the reliability and validity of research findings.
Results Of the 7,694 abstracts identified, 44 studies, including 34 rare diseases, met the inclusion criteria. Administrative
databases were used to collect work-related data in 48% of the studies, and 73% of the studies employed matching methods
for comparison. Overall, 52% of the studies focused solely on employment, 14% focused solely on work ability and 34%
included both categories. Individuals with rare diseases were less likely to be employed or more likely to be unemployed
than controls in 68% of the studies and 87% of the studies reported that individuals with rare diseases were more likely
to be work disabled. Regarding work ability, 90% of the studies reported more missed work time in cases than in controls,
and more perceived impairment at work was found in 100% of the studies.
Discussion/conclusion These results show that individuals with rare diseases tend to have poor work outcomes,
but methodological limitations hamper the understanding of health selection effects. Implications for future research
and policy-making are discussed.