Rethinking fatigue in Gaucher disease.

Gaucher disease (GD) is a rare lysosomal storage disease caused by deficiency in the enzyme beta-glucocerebrosidase. Along with visceral, hematologic, and bone manifestations, patients may experience chronic fatigue resulting in functional disability and reduced quality of life. Management of the disease includes therapeutic intervention, supportive therapies, and regular monitoring of all clinically relevant disease signs and symptoms. However, current practice guidelines do not include measurement of fatigue or therapeutic goals for fatigue.

To provide insight regarding key considerations for fatigue in GD.

We conducted a systematic PubMed literature search and an exploratory, hypothesis-generating survey regarding fatigue in GD.

Our literature search resulted in 19 publications. Of these, 6 were identified that assessed fatigue, including 2 that used specific fatigue assessment instruments. In our survey involving 14 patients with Type 1 GD and 19 physicians, patients ascribed greater importance to fatigue than other disease parameters, while physicians placed more emphasis on objective measures of visceral and hematologic disease manifestations.

Collectively, the results of our literature analysis and survey underscore the need for further investigation and in-office evaluation of fatigue in patients with GD, which will require a reliable, validated, and disease-specific instrument. Criteria for clinically significant fatigue in patients with GD should be established along with the development of a fatigue scale specifically designed for this patient population to provide a more objective means to potentially incorporate fatigue assessment into routine monitoring practices.