Researchers at Israel’s Rambam Health Care Campus and Pfizer conducted a literature review with the objective of providing insight into the measurement, management, and practice guidelines of fatigue in Gaucher disease. The results of the analysis and survey suggest a need for additional investigation of fatigue in patients, the establishment of a fatigue scale, and the integration of fatigue assessment into monitoring practices.
Gaucher disease (GD), caused by mutations in the gene encoding the beta-glucocerebrosidase enzyme, is the most common lysosomal storage disorder. The enzyme deficiency results in the accumulation of the lipid glucocerebroside in cells, leading to a series of clinical manifestations.
Anemia, thrombocytopenia, bone pain, osteoporosis, joint avascular necrosis, and pathologic fractures are common clinical manifestations of GD. The disease has been subdivided into type 1, type 2, and type 3.
Patients may also experience chronic fatigue that can lead to functional disability and poorer quality of life. Currently, practice guidelines for Gaucher disease patients do not include specific measurements of fatigue, and specific management of fatigue is not part of established therapeutic goals.
In this review study, researchers assessed measurement practices of fatigue by conducting a PubMed search of existing literature, and conducted surveys with patients and physicians to assess the importance of fatigue ascribed by both groups.
Results indicated that there is limited peer-reviewed information regarding fatigue in Gaucher disease, which suggests that there is a need for further investigation about this topic. Available literature suggests that patients experience improvements in fatigue within six months of starting ERT, and that this might be one of the first symptoms to show significant improvements.
Due to a lack of a validated and reliable tools in current practice guidelines, healthcare providers may be discouraged from measuring this symptom before treatment and incorporating it as an important treatment goal. Patients report that fatigue significantly impairs quality of life and social functioning.
“Validated, specific tools for clinical assessment of fatigue in patients with GD are not available and constitute a significant unmet need. We propose an expert consensus project to establish criteria for clinically significant fatigue in patients with GD and the development of a validated and specific fatigue scale for patients with GD,” researchers concluded.