Diagnostic delay and complications in young adult Gaucher disease type I

Abstract Background Gaucher disease (GD) is a rare lysosomal storage disorder caused by GBA mutations leading to glucocerebrosidase deficiency. Accumulation of glucocerebroside in macrophages produces multisystemic manifestations. Case presentation We report a 60-year-old woman diagnosed with Type I GD decades after symptom onset. She presented with hepatosplenomegaly, thrombocytopenia, and severe skeletal involvement. Despite late initiation of substrate reduction therapy (SRT) with eliglustat, the patient achieved hematologic stability and remains under multidisciplinary care. Conclusion This case illustrates the diagnostic barriers of rare diseases in low-resource settings and reinforces the importance of early suspicion, genetic confirmation, and biomarker testing to optimize outcomes through timely disease-specific therapy.