Numerous inflammatory and antigen-presenting cell types have also been implicated in patients with Gaucher disease. It is suggested that macrophage activation induced by excess glucosylceramide initiates the release of monocytes and neutrophils, which attract cytokines and C-C and C-X-C chemokines, and the recruitment of neutrophils to visceral organs. Following the entry of macrophages into visceral organs, they are thought to mature into a number of tissue-specific macrophages and dendritic-cell subsets, leading to an increase in the release of inflammatory markers and the mediation of inflammation.5
One study showed that immune alterations were shown to persist in 31 patients (females, n=23; males, n=8) with Gaucher disease even after long-term therapy had been initiated. Persistent immune alterations, especially in B cells and dendritic cells, correlated with a delay in the initiation of enzyme replacement therapy for patients with Gaucher disease. It was also noted that although enzyme replacement therapy may reverse some of these immune abnormalities, the immune-cell alterations may become persistent if treatment is further delayed. These findings suggest that treatment should be initiated early in patients with Gaucher disease as a means to reverse any immune irregularities and avoid the appearance of persistent effects.6