Giraldo Pilar, Andrade-Campos Marcio
Haematology, Hospital Quironsalud, Zaragoza, Spain.
Foundation FEETEG, Zaragoza, Spain.
J Blood Med. 2021 Dec 7;12:1045-1056. doi: 10.2147/JBM.S279756. eCollection 2021.
Gaucher disease (GD) is the most common lysosomal storage disorder. The principal manifestations for its diagnosis and further monitoring include haematological manifestations such as anaemia, thrombocytopaenia, spleen enlargement, and bleeding disorders, among others. This review aims to summarise and update the role of haematological complications in GD diagnosis and follow-up, describe their management strategies, and to use these indicators as part of the diagnostic approach.
A systematic review following the recommendations of PRISMA-P 2020 was carried out. Publications indexed in the databases PubMed, Embase, Science Open, Mendeley, and Web of Science were electronically searched by three independent reviewers, and publications up to June 2021 were accessed. A total of 246 publications were initially listed, of which 129 were included for further review and analysis. Case reports were considered if they were representative of a relevant hematologic complication.
From the first review dated in 1974 to the latest publication in 2021, including different populations confirmed that the haematological manifestations such as thrombocytopaenia and splenomegaly at diagnosis of GD type 1 are the most frequent features of the disease. The incorporation of haematological parameters to diagnosis strategies increases their cost-effectiveness. Hematologic parameters are part of the scoring system for disease assessment and the evaluation of therapeutic outcomes, providing reliable and accessible data to improve the management of GD. However, cytopaenia, underlying coagulation disorders, and platelet dysfunction need to be addressed, especially during pregnancy or surgery. Long-term haematological complications include the risk of neoplasia and immune impairment, an area of unmet need that is currently under research.
Haematological features are key for GD suspicion, diagnosis, and management. Normalization of hematological parameters is achieved with the treatment; however, there are unmet needs such as the underlying inflammatory status and the long-term risk of hematologic neoplasia.
戈谢病（GD）是最常见的溶酶体贮积症。其诊断及进一步监测的主要表现包括血液学表现，如贫血、血小板减少、脾肿大和出血性疾病等。本综述旨在总结和更新血液学并发症在GD诊断和随访中的作用，描述其管理策略，并将这些指标作为诊断方法的一部分。
按照PRISMA-P 2020的建议进行了系统综述。由三名独立审稿人对PubMed、Embase、Science Open、Mendeley和Web of Science数据库中索引的出版物进行电子检索，并获取截至2021年6月的出版物。最初列出了246篇出版物，其中129篇被纳入进一步综述和分析。如果病例报告代表了相关血液学并发症，则予以考虑。
从1974年的首次综述到2021年的最新出版物，涵盖不同人群，证实1型GD诊断时的血小板减少和脾肿大等血液学表现是该疾病最常见的特征。将血液学参数纳入诊断策略可提高其成本效益。血液学参数是疾病评估评分系统和治疗效果评估的一部分，提供可靠且易于获取的数据以改善GD的管理。然而，血细胞减少、潜在的凝血障碍和血小板功能障碍需要得到解决，尤其是在妊娠或手术期间。长期血液学并发症包括肿瘤形成风险和免疫损害，这是一个目前正在研究的未满足需求领域。
血液学特征是GD疑似诊断、诊断和管理的关键。治疗可实现血液学参数的正常化；然而，仍存在未满足的需求，如潜在的炎症状态和血液肿瘤的长期风险。
