Work

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

Year: 2024

Type: article

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.

Source: Medicine

DOI: 10.1097/md.0000000000039354

Authors: Bing Chen, Wenchu Dai, Yuni Xu, Feng Wang, Jinlin Liu

Institutions: First Hospital of Xi'an, Hainan Medical University, Ningbo University, Shenzhen University

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,950