■阵发性睡眠性血红蛋白尿症(PNH)是一种罕见的血液系统疾病,以血管内溶血为特征,血栓形成和骨髓衰竭。对筛查缺乏既定的临床指导,新加坡PNH的诊断和管理。医疗保健专业人员对PNH表现的相对较低的认识进一步导致诊断延迟。此外,获得补体抑制剂的途径有限,比如eculizumab,可能会延迟治疗并影响患者预后。
■来自新加坡不同机构的九名血液学家召开会议,以制定基于证据的共识建议,以优化PNH患者的诊断和管理,并改善获得新治疗的机会。专家们回顾了2010年1月至2023年7月出版的现有文献和国际指南,重点关注了PNH筛查的7个临床问题。诊断标准,调查,亚临床和经典疾病的治疗和监测,PNH伴有潜在的骨髓疾病,和PNH在怀孕。总共审查了181篇论文以制定声明。所有专家都通过两轮Delphi对声明进行了投票,并召集专家小组讨论以完善建议。
■为了优化筛选,已经制定了16条声明,PNH的诊断和管理。确认PNH诊断后,有活动性溶血和/或血栓形成的个体应考虑抗补体治疗,eculizumab是新加坡唯一批准的药物。
■当前的建议旨在指导临床医生优化筛查,新加坡PNH的诊断和管理。
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: The current recommendations aim to guide the clinicians in optimising the screening, diagnosis and management of PNH in Singapore.