Pain and fatigue tied to poorer quality of life in treated Gaucher type 1
Survey of 97 adults highlights symptoms that may persist despite therapy
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Among adults receiving treatment for Gaucher disease type 1, greater pain and fatigue were associated with poorer health-related quality of life, according to a study highlighting the need for greater recognition and more targeted care for these persistent symptoms.
“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,” the researchers wrote.
The study, “Persistent pain and fatigue drive reduced quality of life in treated Gaucher disease type 1: a cross-sectional analysis,” was published in the Orphanet Journal of Rare Diseases.
How Gaucher type 1 develops and is treated
Gaucher disease is caused by mutations in the GBA1 gene, which provides instructions for making an enzyme called glucocerebrosidase. This enzyme normally breaks down a fatty molecule called glucocerebroside. When the enzyme is missing or does not work properly, glucocerebroside accumulates inside cells and can damage multiple organs and tissues.
In Gaucher disease type 1, the most common form of the disease, symptoms usually begin in childhood or adolescence but may not appear until adulthood. The main treatments are enzyme replacement therapy (ERT), which supplies a functional version of the deficient enzyme, and substrate reduction therapy (SRT), which limits the production of glucocerebroside.
While these therapies improve many aspects of the disease, patients often continue to experience symptoms such as pain and fatigue that may not be captured by traditional disease markers. To better understand how these symptoms relate to quality of life, a team of researchers in the U.S. conducted an online survey of 97 adults with Gaucher disease type 1 who were receiving either ERT or SRT.
Among participants who reported their sex, 73% were women. Participants’ average age was 55.4 years. Among the 95 participants who reported their treatment type, 67.4% were receiving ERT and 32.6% were receiving SRT. Participants completed online questionnaires assessing health-related quality of life, fatigue, and how much pain interfered with daily activities.
Compared with data from 2,474 people in the general U.S. population, participants with Gaucher disease type 1 scored significantly lower in seven of the eight domains measured by the 36-item Short Form Survey (SF-36), a widely used questionnaire that evaluates physical and mental health-related quality of life. Lower scores indicate poorer quality of life.
Pain and fatigue persist despite treatment
Because all patients were receiving treatment for Gaucher disease type 1, “these findings suggest a potential disconnect between improvements in traditional clinical markers and persistent patient-reported symptom burden and indicate a need for further research,” the researchers wrote.
The researchers also found that patients reporting more severe pain tended to have worse physical and mental health-related quality of life scores on the SF-36. More severe fatigue was also linked to poorer physical and mental health-related quality of life. Among the other factors examined, only older age was linked to worse physical quality of life.
Further analysis identified pain and fatigue as independent predictors of both physical and mental health-related quality of life, while older age also predicted poorer physical quality of life. Because the study was cross-sectional, it could not determine whether pain or fatigue caused poorer health-related quality of life.
The findings suggest that although current therapies address many clinical aspects of Gaucher disease type 1, they may not fully relieve symptoms that continue to affect patients’ everyday lives.
“Clinicians should continue to routinely assess pain, fatigue, and [health-related quality of life] using standardized patient-reported outcome measures,” the researchers wrote. They added that developing tools specific to Gaucher disease type 1 to measure pain and fatigue could improve understanding of patients’ symptom burden and help guide care.
