Fatigue Should be Measured and Specifically Addressed in Gaucher Disease Patients, Researchers Say

Fatigue Should be Measured and Specifically Addressed in Gaucher Disease Patients, Researchers Say

Fatigue is a debilitating symptom of Gaucher disease (GD) patients that substantially impairs their quality of life, but is usually not clinically assessed by physicians. A new study, entitled “Rethinking fatigue in Gaucher disease,” and published in the Orphanet Journal of Rare Diseases, now suggests that fatigue should be scored and managed in GD patients.

GD is a lysosomal storage disorder caused by mutations in the gene encoding the lysosomal enzyme beta-glucocerebrosidase that leads to the accumulation of a specific lipid in the lysosomes of macrophages, known as Gaucher cells. It can be divided into three types based on their clinical manifestations, but type 1 GD is the most common type.

Clinical manifestations of GD are very heterogeneous and may include anemia, thrombocytopenia, enlargement of the spleen or liver, bone pain and osteoporosis, among others. Management of the disease includes enzyme replacement therapy, supportive therapies and regular monitoring of all clinically relevant symptoms and signs. However, fatigue, a symptom that some patients experience as the most debilitating one, and that often arises from other disease manifestations such as anemia or bone pain, is currently not included in the therapeutic goals of current practice guidelines.

The research team in Israel reviewed the literature and performed a survey to understand the different importance given to fatigue by both physicians and patients.

Their results on the literature search revealed limited peer-reviewed information on fatigue in GD patients. Nonetheless, they found that of the 19 clinical trial studies on GD published in the last 15 years, six addressed fatigue, including two that used specific fatigue assessment instruments.

In their survey, the researchers questioned 19 physicians from several specialties and 14 patients with Type I GD on the importance of fatigue in GD. Interestingly, physicians tended to give greater importance to objective measures of disease manifestations, such as bone pain, liver/spleen volume, or bone density, than to fatigue. Patients, on the other hand, placed more emphasis on fatigue rather than on the other disease parameters.

The authors believe that their results underscore the need for a validated scale to measure fatigue in patients with GD. Although manageable symptoms, such as anemia, often cause fatigue, other symptoms as pain, depression, anxiety, sleep disturbances, can contribute to fatigue. “[I]dentification of optimal treatment modalities for addressing fatigue in patients with GD remains to be defined, and may be facilitated by the creation of a validated and specific tool to measure fatigue in patients with GD,” the authors concluded in their study.

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Inês Martins holds a BSc in Cell and Molecular Biology from Universidade Nova de Lisboa and is currently finishing her PhD in Biomedical Sciences at Universidade de Lisboa. Her work has been focused on blood vessels and their role in both hematopoiesis and cancer development.

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