Gaucher Disease – An Overview

Gaucher disease (GD) is a rare inherited lysosomal storage disorder resulting from mutations in the GBA gene, which encodes the enzyme glucocerebrosidase. This deficiency leads to the accumulation of glucosylceramide within macrophages, forming Gaucher cells and causing diverse clinical manifestations. The disease is classified into three types: Type 1 (non-neuronopathic), Type 2 (acute neuronopathic), and Type 3 (chronic neuronopathic), with Type 1 being the most common. The clinical presentation includes hepatosplenomegaly, anemia, thrombocytopenia, and bone pain, among others. Recent advancements in genetic understanding and therapeutic strategies, such as enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), have improved clinical outcomes. This review focuses on the genetic basis, clinical features, diagnostic strategies, treatment options, and future research directions in Gaucher disease.