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

TL;DR

People with rare diseases face significant challenges in employment and work ability compared to others, but more research is needed to understand the full impact.

Contribution

This study provides the first systematic review of employment and work ability in individuals with rare diseases using matched control groups.

Findings

Individuals with rare diseases are more likely to be unemployed or work disabled compared to controls.

They also experience more missed work time and perceived work impairment.

Most studies used administrative data and matching methods to compare outcomes.

Abstract

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.

This study presents an overview of employment and work ability in individuals living with rare diseases, two factors related to health selection effects.

A systematic literature review was conducted using the PRISMA checklist. Three electronic databases, PubMed, 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.

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.

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.

The online version contains supplementary material available at 10.1186/s13023-025-03691-7.

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