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Pain and Fatigue Associated with Generalized Joint Hypermobility in Gaucher Disease

Mahan, Farrah R, B.A.
http://orcid.org/0000-0002-5878-961X
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1525168102345918

Abstract Details

2018, MS, University of Cincinnati, Medicine: Genetic Counseling.
Gaucher Disease (GD) is an autosomal recessive inherited lysosomal storage disease that can cause symptoms such as hepatosplenomegaly, pulmonary disease, fatigue, and bone pain and crises. Treatment is primarily through enzyme replacement therapy or substrate reduction therapy. While most physicians show concern with improving visceral and hematologic symptoms, patients report interest in decreasing fatigue and pain, which has an effect on quality of life. Observed abnormalities in cytokine secretion in GD patients have been shown. Excess cytokines are known to cause tissue damage, bone remodeling, and increased inflammation. Generalized joint hypermobility (GJH) is characterized by joint laxity and increased joint range, and has also been seen to affect levels of both pain and fatigue. Physical therapy is the recommended treatment. This study investigated the relationship in patients with GD between chronic pain, residual fatigue, and GJH. Focused on patients at CCHMC who have GD Type 1, participants performed a Beighton Score and five-part questionnaire to meet diagnostic criteria for GJH. The Brief Pain Inventory (BPI) and Fatigue Severity Scale (FSS) were used to assess levels of pain and fatigue. Therapeutic goals and the Disease Severity Scoring System (DS3) were used to evaluate treatment goals and disease involvement. Through our collection of data, we found 33% of our population of 12 participants met GJH criteria. Of those with GJH, 50% expressed moderate pain severity and 25% reported moderate pain interference, compared to 12.5% and 0% of those without GJH for severity and interference, respectively. Similarly, 50% of participants with GJH reported severe fatigue as well as 50% of participants without GJH. These findings were not statistically significant. However, there was a strong positive correlation between reported values of pain severity, pain interference, and fatigue. Patients tended to report higher levels of one value if they reported higher levels of another. Participants were found to meet a median of 96.3% of Gaucher-related therapeutic goals. In those with GJH versus those without GJH, 50% and 57.1%, respectively, were categorically assessed as having a “mild disease” involvement. Associations were not statistically significant. The goal of the study was to determine if patients with GD who have GJH experience more pain and fatigue than those who do not have GJH. Current literature supports that 2-57% of the general population has GJH, while our study found 25% of our population. We did not see a significant change in the levels of pain and fatigue between the two groups of participants, but the study did reinforce that those who report higher levels of pain severity and interference also report high levels of fatigue, regardless of a GJH diagnosis. With that in mind, someone with high levels of pain may also need to have anticipatory management for fatigue. Our patients were also well-managed and met many therapeutic goals, which may account for the levels of pain and fatigue reported. Future studies recommended include larger, more generalizable studies for GD and GJH.
Derek Neilson, M.D. (Committee Chair)
Laurie Bailey, M.S (Committee Member)
Valentina Pilipenko, Ph.D. (Committee Member)
Carlos Prada, M.D. (Committee Member)
31 p.
Genetics
Gaucher Disease; Generalized Joint Hypermobility; Pain; Fatigue; Fatigue Severity Scale; Brief Pain Inventory

Recommended Citations

Citations

  • Mahan, F. R. (2018). Pain and Fatigue Associated with Generalized Joint Hypermobility in Gaucher Disease [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1525168102345918

    APA Style (7th edition)

  • Mahan, Farrah. Pain and Fatigue Associated with Generalized Joint Hypermobility in Gaucher Disease. 2018. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1525168102345918.

    MLA Style (8th edition)

  • Mahan, Farrah. "Pain and Fatigue Associated with Generalized Joint Hypermobility in Gaucher Disease." Master's thesis, University of Cincinnati, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1525168102345918

    Chicago Manual of Style (17th edition)

ucin1525168102345918
322
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This open access ETD is published by University of Cincinnati and OhioLINK.