Which pathophysiological mechanism is primarily involved in Gaucher disease?

Gaucher disease is primarily associated with the accumulation of glucocerebrosides, which are a type of glycolipid. This condition results from a deficiency of the enzyme glucocerebrosidase, which is responsible for breaking down glucocerebrosides into glucose and ceramide. When this enzyme is deficient or dysfunctional, glucocerebrosides build up, particularly within macrophages, leading to the characteristic histiocytic cells known as Gaucher cells.

These Gaucher cells can infiltrate various organs, including the spleen, liver, and bone marrow, causing symptoms such as splenomegaly, hepatomegaly, bone pain, and anemia. The accumulation of glucocerebrosides and the resultant cell dysfunction is the fundamental pathological process in Gaucher disease, differentiating it from other mechanisms such as neurodegeneration, vascular issues, or oxidative stress, which are associated with different disorders or diseases. Understanding this core pathophysiology helps in the diagnosis and treatment of Gaucher disease.