• Medicine · Aug 2024

    Case Reports

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

    • Bing Chen, Wenchu Dai, Yuni Xu, Feng Wang, and Jinlin Liu.
    • Department of Clinical Laboratory, Wenchang People's Hospital, Wenchang, Hainan, China.
    • Medicine (Baltimore). 2024 Aug 23; 103 (34): e39354e39354.

    RationaleGaucher 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 ConcernsEarly diagnosis is important for initiating proper treatment and preventing complications.DiagnosesTwo patients were diagnosed as GD in this study.Interventions And OutcomesThese 2 patients received the imiglucerase enzyme replacement and symptoms significantly improved by the follow-up.LessonsHerein, 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.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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