Abstract
People with rare disease have lower health-related quality of life (HRQoL) than the general population (Megari, 2013). Gaucher disease type 1 (GD1) is a rare, autosomal recessive, lysosomal storage disorder, caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, that affects multiple bodily systems and is classified by the absence of neurodegenerative disease (Mistry et al., 2015; Stirnemann et al., 2017). An estimated 125,000 people have GD1 worldwide with about 6,000 people in the U.S. Pain and fatigue are the most commonly reported symptoms (Hayes et al., 1998), but both have been understudied (Drelichman et al., 2016; Zion et al., 2016). This study explored associations between pain and fatigue with HRQoL among 97 adults with GD1 who were taking enzyme replacement (67.4%) or substrate reduction therapy (32.6%). Participants were recruited through Facebook pages of U.S., Canadian, and international Gaucher organizations. The sample was 73% female, 92% non-Hispanic white, 8% Hispanic or Latino, mostly adults age 45 years or over (62.9%), with 53.7% having been on any type of treatment for 20 years or longer. On average, they reported pain and fatigue scores of (M = 51.89, SD = 9.51) and (M = 53.65, SD = 11.22), respectively, on a scale of 0 - 100; physical HRQoL scores of (M = 63.48, SD = 24.63), and mental HRQoL scores of (M = 67.00, SD = 22.40) on a scale of 0 - 100. There were strong, negative correlations between both pain and fatigue for both physical (r = -.83, r = -.68, respectively) and mental (r = -.69, r = -.75, respectively) HRQoL (all p < .001). Pain and fatigue were significant predictors in the regression analyses for physical and mental HRQoL, even when controlling for individual differences, treatment type, and treatment satisfaction. People with GD1 who report higher levels of pain or fatigue also report lower HRQoL. Even though treatment has been available for many years, people with GD1 still have lower than U.S. population norms for health-related quality of life, with pain and fatigue as significant contributors. Nurses have the opportunity to impact people with GD1 globally through the use of standardized, valid pain and fatigue measures in their assessments to better understand the symptom experiences of people with GD1. The implementation of pharmacological and non-pharmacological interventions by nurses can address and improve pain and fatigue which can further improve HRQoL among people with GD1.
Sigma Membership
Non-member
Type
Presentation
Format Type
Text-based Document
Study Design/Type
Other
Research Approach
Other
Keywords:
Primary Care, Policy and Advocacy, Interprofessional Initiatives, Gaucher Disease Type 1
Recommended Citation
Mangum, Shauna L.; Hernandez, Stephen H. A.; Dickson, Elizabeth L.; Packman, Wendy; and Tigges, Beth B., "Symptoms of Pain and Fatigue Among Adults with Gaucher Disease Type 1" (2025). International Nursing Research Congress (INRC). 226.
https://www.sigmarepository.org/inrc/2025/presentations_2025/226
Conference Name
36th International Nursing Research Congress
Conference Host
Sigma Theta Tau International
Conference Location
Seattle, Washington, USA
Conference Year
2025
Rights Holder
All rights reserved by the author(s) and/or publisher(s) listed in this item record unless relinquished in whole or part by a rights notation or a Creative Commons License present in this item record.
Review Type
Abstract Review Only: Reviewed by Event Host
Acquisition
Proxy-submission
Symptoms of Pain and Fatigue Among Adults with Gaucher Disease Type 1
Seattle, Washington, USA
People with rare disease have lower health-related quality of life (HRQoL) than the general population (Megari, 2013). Gaucher disease type 1 (GD1) is a rare, autosomal recessive, lysosomal storage disorder, caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, that affects multiple bodily systems and is classified by the absence of neurodegenerative disease (Mistry et al., 2015; Stirnemann et al., 2017). An estimated 125,000 people have GD1 worldwide with about 6,000 people in the U.S. Pain and fatigue are the most commonly reported symptoms (Hayes et al., 1998), but both have been understudied (Drelichman et al., 2016; Zion et al., 2016). This study explored associations between pain and fatigue with HRQoL among 97 adults with GD1 who were taking enzyme replacement (67.4%) or substrate reduction therapy (32.6%). Participants were recruited through Facebook pages of U.S., Canadian, and international Gaucher organizations. The sample was 73% female, 92% non-Hispanic white, 8% Hispanic or Latino, mostly adults age 45 years or over (62.9%), with 53.7% having been on any type of treatment for 20 years or longer. On average, they reported pain and fatigue scores of (M = 51.89, SD = 9.51) and (M = 53.65, SD = 11.22), respectively, on a scale of 0 - 100; physical HRQoL scores of (M = 63.48, SD = 24.63), and mental HRQoL scores of (M = 67.00, SD = 22.40) on a scale of 0 - 100. There were strong, negative correlations between both pain and fatigue for both physical (r = -.83, r = -.68, respectively) and mental (r = -.69, r = -.75, respectively) HRQoL (all p < .001). Pain and fatigue were significant predictors in the regression analyses for physical and mental HRQoL, even when controlling for individual differences, treatment type, and treatment satisfaction. People with GD1 who report higher levels of pain or fatigue also report lower HRQoL. Even though treatment has been available for many years, people with GD1 still have lower than U.S. population norms for health-related quality of life, with pain and fatigue as significant contributors. Nurses have the opportunity to impact people with GD1 globally through the use of standardized, valid pain and fatigue measures in their assessments to better understand the symptom experiences of people with GD1. The implementation of pharmacological and non-pharmacological interventions by nurses can address and improve pain and fatigue which can further improve HRQoL among people with GD1.
Description
Adults with the rare disease, Gaucher disease type 1 (GD1), have lower health-related quality of life (HRQoL) even with treatment available. In a study of 97 adults with GD1, symptoms of pain and fatigue had a strong, negative correlation with HRQoL. Pain and fatigue were significant predictors in regression analyses with HRQoL. Nurses and nurse researchers have opportunities to positively impact people with GD1 by addressing and researching these intractable symptoms.