A Comprehensive Literature Review of the Burden of Gaucher Disease.

BACKGROUND: Gaucher disease (GD) is an inherited, rare, lysosomal storage disorder caused by a genetic deficiency of glucocerebrosidase. The result is the accumulation of the substrate, glucosylceramide, in the lysosomes of macrophage cells in the liver, spleen, bones, lungs, and other vital tissues. Three subtypes of Gaucher disease are recognized: type 1 (GD1, non-neuropathic), type 2 (GD2, acute neuropathic), and type 3 (GD3, subacute/chronic neuropathic). Clinical manifestations of the disease are multi-systemic, clinically heterogeneous, and require lifelong management. METHODS: To better understand the burden of GD, a comprehensive review of the published literature was conducted. MEDLINE, EMBASE, CENTRAL, and “grey” literature sources published in English between January 1990 and February 2013 were searched for relevant publications. A total of 97 publications were summarized. RESULTS: The standardized incidence and prevalence of GD in the general population varies from 0.30 to 5.80 per 100,000 and 0.33 to 1.75 per 100,000, respectively, and GD1 is the predominant type in most regions. The risk of mortality is highest in GD patients younger than age 5 years and generally increases after age 55; the life expectancy is lower than the general population. Common manifestations of GD such as anemia, thrombocytopenia, splenomegaly, hepatomegaly, and bone disease lead to a decreased quality of life. Reported GD comorbidities include Parkinson’s disease and cancer. Current treatment options consist of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). ERT is the standard of care, though unmet needs still exist, especially for GD2 and GD3. CONCLUSION: GD is a rare, chronic disease associated with significant burden to patients and caregivers. While ERT is an effective and well-established treatment for GD patients, several unmet needs exist and further research is needed in this area.