Fatigue in Gaucher Disease, a Key Quality-of-Life Concern: A Case Series

Hexner-Erlichman Z1,2* and Rosenbaum H2,3

1Pediatric Clinic, North District, Clalit Health Services Community Division, Israel
2The Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel
3Hemato-Oncology and Gaucher Center, Nazareth Towers Center for Consultant Medicine, Clalit Health Services Community Division, Israel

^*Correspondance to: Zufit Hexner-Erlichman 

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Abstract:

Background: Gaucher disease is an autosomal recessive lysosomal storage disease characterized by glucosylceramide accumulation in the lysosomes of macrophages. Common clinical features of Gaucher disease include hepatosplenomegaly, pancytopenia, and bone manifestations. Treatment may involve enzyme replacement therapy, substrate reduction therapy, and supportive care. Patients with Gaucher disease often present with chronic, debilitating fatigue and consider absence of fatigue to be one of the most important management goals. Methods: In an effort to demonstrate the importance of fatigue in Gaucher disease, we describe the presentation, treatment, and outcome of five patients with Gaucher disease who presented with fatigue. Results: The patients ranged in age from 17 to 66 years, and each experienced improvement in fatigue after initiating enzyme replacement therapy. Conclusion: Although the regulatory criteria for the use of enzyme replacement therapy and substrate reduction therapy in patients with Gaucher disease in Israel do not include fatigue, these case examples suggest that fatigue should be regarded as a criterion to initiate treatment and improve quality of life in patients with Gaucher disease. Inflammation and autoimmunity may play a role in the etiology of fatigue in patients with Gaucher disease.

Keywords:

Gaucher disease; Lysosomal storage diseases; Glucosylceramide; Enzyme replacement therapy; Fatigue; Quality of life

Cite the Article:

Hexner-Erlichman Z, Rosenbaum H. Fatigue in Gaucher Disease, a Key Quality-of-Life Concern: A Case Series. Ann Clin Case Rep. 2024; 9: 2644.