Gaucher disease and Lupus: a rare association?

Gaucher disease (GD), is an autosomal recessive lysosomal storage disease that is due to mutations in the glucocerebrosidase (GC) gene, with a prevalence of 1/57,000 to 1/75,000 births worldwide and significantly more common among the Ashkenazi Jewish heritage. GD is categorized into three clinical types4 and the clinical manifestations result from the accumulation of the lipid-laden macrophages in the spleen, liver, bone, bone marrow, leading to impairment of central nervous system in the most severe cases.