Gaucher’s disease is an autosomal recessive systemic lysosomal storage disorder, characterized by glucocerebroside deposition in cells of the macrophage-monocyte system as a result of deficiency of lysosomal acid beta-glucosidase(glucocerebrosidase). It is a rare genetic disorder and the most common among lysosomal storage disorders. Accumulation of glucocerebroside in tissues leads to multisystem organ involvement viz. liver, spleen, bone marrow, lungs, and central nervous system. It is common in Ashkenazi Jews but rare in India. Gaucher’s disease is a slowly progressive multisystem disease so it is difficult to diagnose early as it can be confused with so many differential diagnoses like hemolytic anemia, hematological malignancies, and chronic liver disease with portal hypertension. Detailed history, complete examination, and basic laboratory investigations are of prime importance to diagnose Gaucher’s disease early.
Key words: Ashkenazi Jews, Glucocerebrosidase, lysosomal storage disorders
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