Department of Haematology, Singapore General Hospital, Singapore.
Department of Laboratory Medicine, National University of Singapore, Singapore.
Ann Acad Med Singap. 2024 Jun 28;53(6):371-385. doi: 10.47102/annals-acadmedsg.202475.
Paroxysmal nocturnal haemoglobinuria (PNH) is a rare haematologic disease characterised by intravascular haemolysis, thrombophilia and bone marrow failure. There is a lack of established clinical guidance on the screening, diagnosis and manage-ment of PNH in Singapore. A relatively low level of awareness among healthcare professionals regarding PNH manifestations further contributes to diagnostic delays. Additionally, limited access to complement inhibitors, like eculizumab, may delay treatment and impact patient outcomes.
Nine haematologists from different institu-tions in Singapore convened to formulate evidence-based consensus recommendations for optimising the diagnosis and management of patients with PNH and improving access to novel treatments. The experts reviewed the existing literature and international guidelines published from January 2010 to July 2023, focusing on 7 clinical questions spanning PNH screening, diagnostic criteria, investigations, treatment and monitoring of subclinical and classic disease, PNH with underlying bone marrow disorders, and PNH in pregnancy. A total of 181 papers were reviewed to formulate the statements. All experts voted on the statements via 2 rounds of Delphi and convened for an expert panel discussion to finetune the recommendations.
Sixteen statements have been formulated for optimising the screening, diagnosis and management of PNH. Upon confirmation of PNH diagnosis, individuals with active haemolysis and/or thrombosis should be considered for anti-complement therapy, with eculizumab being the only approved drug in Singapore.
The current recommendations aim to guide the clinicians in optimising the screening, diagnosis and management of PNH in Singapore.
阵发性夜间血红蛋白尿症（PNH）是一种罕见的血液学疾病，其特征为血管内溶血、血栓形成和骨髓衰竭。新加坡缺乏针对 PNH 筛查、诊断和管理的既定临床指南。医护人员对 PNH 表现的认识相对较低，这进一步导致了诊断延迟。此外，由于缺乏补体抑制剂，如依库珠单抗，可能会延迟治疗并影响患者的预后。
来自新加坡不同机构的 9 位血液学家齐聚一堂，制定了优化 PNH 患者诊断和管理的循证共识推荐意见，以改善新型治疗方法的可及性。专家们回顾了 2010 年 1 月至 2023 年 7 月期间发表的现有文献和国际指南，重点关注 7 个临床问题，涵盖 PNH 筛查、诊断标准、检查、亚临床和典型疾病的治疗和监测、伴有基础骨髓疾病的 PNH 以及妊娠期间的 PNH。共回顾了 181 篇论文来制定这些陈述。所有专家都通过两轮 Delphi 投票对陈述进行了投票，并召开了专家小组讨论，以微调建议。
为了优化 PNH 的筛查、诊断和管理，制定了 16 项陈述。一旦确诊为 PNH，应考虑对有活动性溶血和/或血栓形成的个体进行抗补体治疗，依库珠单抗是新加坡唯一批准的药物。
目前的建议旨在为新加坡的临床医生提供优化 PNH 筛查、诊断和管理的指导。
