ArticleOrphanet journal of rare diseases2026
persistent pain and fatigue drive reduced quality of life in treated Gaucher disease type 1: a cross-sectional analysis.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeGaucher disease type 1 (GD1) is a multisystem lysosomal disorder in which treatment with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) improves key clinical parameters. However, many patients continue to experience persistent symptoms that are not captured by traditional disease markers. This study evaluated the relationship between pain, fatigue, and health-related quality of life (HRQoL) among treated adults with GD1.
methodsIn this cross-sectional study, adults with GD1 receiving ERT or SRT (N = 97) completed an online survey including the 36-item Short Form Survey (SF-36), PROMIS
resultsPain and fatigue were strong, independent predictors of both physical and mental HRQoL, with age additionally predicting physical HRQoL. Significant negative correlations were observed between pain and HRQoL (physical and mental), as well as between fatigue and HRQoL. Participants reported significantly lower HRQoL compared with U.S. population norms across 7 of 8 SF-36 domains.
conclusionsPersistent pain and fatigue represent major, under-recognized drivers of impaired quality of life in treated GD1, indicating that current therapies do not fully address the symptomatic burden of disease. These findings support routine integration of validated patient-reported outcome measures into clinical care and highlight the need for adjunctive and mechanism-based approaches to improve patient-centered outcomes.
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