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Gaucher disease and Lupus: a rare association?
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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.