Non-neuronopathic Gaucher disease (Type I) in an elderly female: a case report

Introduction and importance: Gaucher disease is a rare autosomal recessive lysosomal storage disorder marked by a substantial reduction in beta-glucocerebrosidase activity. Historically, supportive treatments such as splenectomy and orthopedic interventions were employed, whereas recent advances have led to the approval of Enzyme Replacement Therapy (ERT) and Substrate Reduction Therapy (SRT) as therapeutic options.

Case presentation: The authors present the case of a 61-year-old female with chronic abdominal pain, abdominal fullness, pancytopenia, and hepatosplenomegaly, all indicative of Gaucher's disease, later confirmed by histopathological examination. The patient was informed about newer treatment options like ERT and SRT, as well as the traditional approach of splenectomy. However, due to financial constraints, she opted for splenectomy in conjunction with conservative management.

Discussion: Gaucher disease is defined by a deficiency of glucocerebrosidase, leading to the accumulation of Gaucher cells (pathognomonic of the disease), particularly in the spleen, liver, bone marrow, and lungs. Type 1 Gaucher disease (GD1) can manifest at any age, from childhood to late adulthood. Definitive diagnosis is confirmed by reduced beta-glucocerebrosidase activity. Traditionally, treatment options for GD1 have been supportive, including splenectomy, blood transfusions, and orthopedic procedures. However, SRT and ERT, though effective, remain prohibitively expensive and often inaccessible in low-resource settings.

Conclusion: Early diagnosis of Gaucher disease is challenging due to its rarity and should be considered in patients presenting with hepatosplenomegaly, pancytopenia, and low glucocerebrosidase activity.