Two delayed-diagnosis case reports of long-lasting thrombocytopenia with splenomegaly

Abstract

Rationale: Gaucher disease (GD) is a rare hereditary lysosomal storage disorder disease progression and inappropriate treatment. However, not all patients with GD receive timely diagnosis and treatment. Patient concerns: Early diagnosis is important for initiating proper treatment and preventing complications. Diagnoses: Two patients were diagnosed as GD in this study. Interventions and outcomes: These 2 patients received the imiglucerase enzyme replacement and symptoms significantly improved by the follow-up. Lessons: Herein, we report 2 patients with a delayed diagnosis of GD to increase awareness and improve education regarding rare diseases. However, noninvasive β-glucocerebrosidase activity or GBA gene testing had not been done before bone marrow aspiration, which are the noninvasive and reliable tests that indicate the diagnosis of GD.