Consensus of Gaucher Disease by Experts from Multidisciplinary Team(2020)

Gaucher disease(GD) is a rare hereditary lysosomal disorder caused by mutations in the glucocerebrosidase gene. Due to the reduciton of lysosomal enzyme β-glucocerebrosidase activity, the substrate of glucocerebroside is stored in the lysosomes of macrophages in the liver, spleen, bone, brain, and eyes. Patients with GD usually present with liver and spleen enlargement, bone pain, anemia, thrombocytopenia, neurological symptoms, and other systemic symptoms. Multidisciplinary teamwork is required for the diagnosis and effective treatment of the disease due to its rareness and diverse clinical manifestations. After discussing with experts from the related departments, we wrote the consensus based on the multidisciplinary consultation and the new progress in this area, in order to provide a more comprehensive understanding of this rare and difficult disease.