Recognizing Gaucher disease in the fifth decade and beyond: a retrospective case study in patients of Ashkenazi Jewish descent
Gaucher disease (GD) results in visceral, hematological, and skeletal manifestations. The Ashkenazi Jewish (AJ) population has the highest prevalence due to a founder effect involving the glucocerebrosidase-1 (GBA1) p.N409S variant. Despite this high prevalence, diagnosis can be delayed. We present clinical findings from 20 patients of AJ descent diagnosed with GD type 1 (GD1) at ≥ 50 years of age. Sixty percent underwent bone marrow biopsy as part of their clinical work-up; 20% had a positive family history; 15% were diagnosed during Parkinson’s disease evaluation; and one patient was identified incidentally through carrier screening. Presenting signs/symptoms included splenomegaly, osteopenia/osteoporosis, thrombocytopenia, anemia, bone/joint pain, lytic lesions/avascular necrosis/pathological fractures, pulmonary manifestations, and parkinsonism. All patients had elevated plasma glucosylsphingosine (lyso-Gb
