Department of Hematology and Rheumatology, Kagoshima University Hospital, Kagoshima, Japan.
Japan Medical Office, Takeda Pharmaceutical Company Limited, Tokyo, Japan.
Intern Med J. 2023 Jun;53(6):930-938. doi: 10.1111/imj.15790. Epub 2022 Jun 3.
Gaucher disease (GD) is a rare, inherited metabolic disorder resulting from glucocerebrosidase deficiency. Patients benefit from early treatment as complications can arise from delayed diagnosis.
To measure GD awareness among Japanese haematologists and gastroenterologists, who are the specialists most likely to encounter patients with symptoms recognised in the Gaucher Earlier Diagnosis Consensus (GED-C), such as hepatosplenomegaly and thrombocytopenia. Additionally, we aimed to determine key signs from the GED-C associated with early diagnosis.
A quantitative web survey assessed Japanese haematologists and gastroenterologists for their (i) basic awareness of GD, (ii) explicit awareness of GD signs, (iii) explicit awareness of GD treatments and (iv) accuracy in suspecting GD in model patients.
Survey results from 160 haematologists and 166 gastroenterologists indicated that more than 50% of haematologists were aware of GD symptoms, diagnostic criteria and/or treatments, and 38% of them had experienced or suspected GD. The majority of gastroenterologists were unaware of GD or knew the disease only by name, with 20% experiencing or suspecting GD in practice. Almost 70% of haematologists knew of enzyme replacement therapy, while 47% of gastroenterologists were not aware of any treatments for GD. Of the GED-C items, an awareness of bone-associated signs was correlated with accurate GD diagnosis in model patients and this awareness was greater among haematologists than gastroenterologists.
The present study showed that haematologists had greater awareness of GD than gastroenterologists, and that bone pain may be a key sign of GD to enhance early diagnosis.
戈谢病（GD）是一种罕见的遗传性代谢疾病，由葡萄糖脑苷脂酶缺乏引起。患者从早期治疗中受益，因为延迟诊断会导致并发症。
测量日本血液学家和胃肠病学家对 GD 的认识，他们是最有可能遇到具有 Gaucher 早期诊断共识（GED-C）中识别症状的患者的专家，例如肝脾肿大和血小板减少症。此外，我们旨在确定与早期诊断相关的 GED-C 的关键体征。
一项定量网络调查评估了日本血液学家和胃肠病学家的（i）对 GD 的基本认识，（ii）对 GD 体征的明确认识，（iii）对 GD 治疗方法的明确认识，以及（iv）对模型患者中 GD 的怀疑准确性。
来自 160 名血液学家和 166 名胃肠病学家的调查结果表明，超过 50%的血液学家对 GD 症状、诊断标准和/或治疗方法有一定的认识，其中 38%的人有过或怀疑过 GD。大多数胃肠病学家对 GD 一无所知，或者只知道这个病的名字，其中 20%的人在实践中遇到过或怀疑过 GD。几乎 70%的血液学家知道酶替代疗法，而 47%的胃肠病学家不知道 GD 的任何治疗方法。在 GED-C 项目中，对骨骼相关体征的认识与对模型患者的准确 GD 诊断相关，这种认识在血液学家中比在胃肠病学家中更为普遍。
本研究表明，血液学家对 GD 的认识高于胃肠病学家，骨骼疼痛可能是增强早期诊断的 GD 关键体征。
