Abstract
Melorheostosis is a rare skeletal disorder with symptoms that include loss of range of motion and pain. Four measures were used to understand the burden of these symptoms on activity engagement. Results revealed decreased participation in high-demand leisure and lower extremity tasks. There was a correlation between physical and reduced activity fatigue constructs and activity engagement. Further study will provide insight on disease burden across the life cycle within this population.
Primary Author and Speaker: Kathleen Farrell
Additional Authors and Speakers: Danielle Cawley, Rebecca Irwin, Paige Pachuilo, and Kaitlin Wheeler
Melorheostosis is a rare and poorly understood non-familial skeletal disease with a prevalence of 0.9 in one million.1 It is characterized by osteosclerotic lesions, most often in the lower extremity.2 The disease presents with a wide range of bodily function involvement including potentially: joint deformities, limb-length discrepancy, soft tissue masses, muscle atrophy, pain, and sensory deficits.2-4 As a result of these features patients may report fatigue along with reduced activity engagement in basic and instrumental activities of daily living. The primary aim of this study was to characterize fatigue and the effects of melorheostosis on occupational engagement. Participants were recruited via clinical trial webpage, social media, and patient advocacy organizations in an IRB approved natural history longitudinal study. In this study, data were collected between October 2015 and December 2019 from baseline visits of 45 participants age 18 and older with a confirmed diagnosis of melorheostosis. Measures utilized included the Activity Card Sort, 2nd Edition, Recovering Form B (ACS); Multidimensional Fatigue Inventory (MFI); Upper Extremity Functional Index (UEFI); and Lower Extremity Functional Scale (LEFS). The average age was 44, majority were female (75.6%), white/non-Hispanic (84.4%), and had completed at least some college (82.2%). Nearly 58% were employed. The mean age at time of diagnosis was 28 years with a range of 3-65 years. Sixty-six percent of patients had lesions in the lower extremity, while 33% had lesions in the upper extremity. To analyze the relationships of the ACS subdomains t-tests were performed from which effect sizes and Pearson correlation coefficients were calculated. The low demand leisure (LDL) subdomain had the highest retained activity score (92.1%) while the high demand leisure (HDL) subdomain had the lowest (67.8%). The mean difference of the HDL compared to the 3 other subdomains was p = 0.0001. Approximately 20% of patients had given up participation in self-identified important HDL activities compared to < 5% in the 3 other subdomains. The general fatigue (GF) and physical fatigue (PF) constructs had the highest degree of fatigue involvement (11%). Moderate negative correlations were found between PF and the HDL (p = 0.001, r = -0.58) and global ACS (p = 0.001, r = -0.52) scores. Patients with UE lesions had an average score of 71.7% on the UEFI as compared to 86.5% for patients with LE lesions. This difference was significant (p = 0.040) with a medium effect (d = 0.69). Statistical difference was found on the LEFS scores between patients with LE lesions (61.4%) to those with UE lesions (84.3%), (p = 0.007) and with a large effect (d = 0.95). These results support the hypothesis that melorheostosis contributes to decreased ability to engage in instrumental, leisure, and social activities. Lower engagement in HDL is likely due to the high energy expenditure of these activities and the importance of prioritizing roles and routines of essential tasks for daily community and home life. Identifying the variable influences of fatigue is recommended when establishing intervention strategies within this population. Scores on the UEFI and LEFS highlight the importance of capturing task performance for activities utilizing the affected extremity. By incorporating the ACS, MFI, LEFS, and UEFI to assess changes in patterns of activity participation and function, occupational therapists can provide individualized, evidence-based care to persons with melorheostosis to maintain participation in valued activities. Long-term study is ongoing exploring changes in occupational engagement across the lifespan in persons with melorheostosis. Findings about this disease could have potential implications for related conditions.
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4. Smith, G. C., Pingree, M. J., Freeman, L. A., Matsumoto, J. M., Howe, B. M., Kannas, S. N., & Jurisson, M. L. (2017). Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic. PM & R: The journal of injury, function, and rehabilitation, 9(3), 283-288. http://dx.doi.org/10.1016/j.pmrj.2016.07.530