The Uneven Effect of Rare Diseases on Functional Status and Work Capacity.

Abstract

Background: Rare diseases are defined as clinical conditions that affect only a small number of persons in a population, considered fewer than 1 per 2000 in the European Union or fewer than 1 per 1600 in the United States They are serious, often chronic and progressive conditions, characterized by a pronounced clinical polymorphism that crosses all medical specialties. Multiple areas of life beyond just physical health are affected with significant impact on patients, families, and healthcare systems. Objective: To analyze the socio-demographic, medical, and vocational characteristics that correlate with functional status and work disability as a measure of quality of life in rare diseases. Methods: An observational retrospective study of adults with rare diseases evaluated for eligibility for social insurance rights in the National Institute of Medical Assessment and Work Capacity Rehabilitation Bucharest (INEMRCM, the Romanian abbreviation) over a 5-year period was made. Descriptive analysis was used to present sample characteristics. Means and standard deviations (SD) were calculated to describe numerical variables, frequencies were used to describe categorical variables, and logistic regression analysis was conducted to evaluate potential predictors of work capacity. All statistical analyses were performed by PSPP.3 software. p < 0.05 was the cut-off for statistical significance with a 95% confidence interval. Results: 90 consecutive persons were included in the survey. The mean age of the group was 44.5 years ± SD 10.61 years, with a female/male ratio of 48/42 persons. The mean disease duration was 10.61 years ± SD 9.76 years. Men had more severe disease (73.81%); p = 0.018 and significantly younger retirement age, M/F = 39.10 ± 12.26/43.06 ± 9.32; p = 0.037. Less disabling diseases were predominant autoimmune conditions (85.71% of cases); genetic conditions had a more severe functional impact in 63.75% of cases; p = 0.037. People with multisystem diseases but with specific or targeted treatment can work more frequently (76.19%); those with visual impairment have more severe impairments (73.77%); p < 0.001. All individuals who received specific therapy had a better functional status, unlike only 37.21% of those who received symptomatic treatment or treatment for complications; p = 0.023. Logistic regression analysis indicated that the type of impairment and the availability of specific treatments could serve as predictors of a reduced likelihood of employment in rare disease cases. Education level and occupation were not correlated with functional impairment and work disability (NS). Conclusions: Several factors, including some that are modifiable, were associated with better outcomes, such as reduced disability and an increased potential for work participation. Sex, disease etiology, type of impairment, and treatment were all significantly linked to functional capacity. Among these, the type of impairment and the availability of specific treatments might be predictors of employment. Addressing these parameters requires a multidisciplinary team, involving specialized care and comprehensive support services to improve the overall quality of life of individuals affected by rare diseases.