The critical importance of recognizing Gaucher disease in the fifth decade and beyond

For decades, the clinical management of Gaucher disease type 1 (GD1) in the Ashkenazi Jewish (AJ) population has been influenced by a persistent misconception: that patients homozygous for the founder variant p.N409S in the glucocerebrosidase-1 gene (GBA1), diagnosed in late adulthood (after 50 years of age), have a benign, non-progressive condition.