Haemophilia and Thrombosis Centre, Belfast City Hospital, Belfast, Northern Ireland, United Kingdom.
Klinikum Bremen-Mitte, Professor Hess Children's Hospital, Bremen, Germany.
Blood Transfus. 2018 Nov;16(6):535-544. doi: 10.2450/2017.0150-17. Epub 2017 Nov 14.
Mild haemophilia is defined by factor levels between 0.05 and 0.40 IU/mL and is characterised by traumatic bleeds. Major issues associated with mild haemophilia are that it may not present for many years after birth, and that awareness, even within families, may be low. Methodological problems exist in diagnosis, such as inconsistencies in results obtained from different assays used to measure factor levels in mild haemophilia. Advances in genetic testing provide insight into diagnosis as well as the likelihood of inhibitor development, which is not uncommon in patients with mild or moderate haemophilia and can increase morbidity. The management of patients with mild haemophilia is a challenge. This review includes suggestions around formulating treatment plans for these patients, encompassing the full spectrum from clinical care of the newly diagnosed neonate to that of the ageing patient with multiple comorbidities. Management strategies consider not only the vast differences in these patients' needs, but also risks of inhibitor development and approaches to optimally engage patients.
轻度血友病的定义为因子水平在 0.05 至 0.40 IU/mL 之间,其特征是创伤性出血。与轻度血友病相关的主要问题是,它可能在出生后多年才出现,甚至在家庭内部,意识也可能较低。在诊断方面存在方法学问题,例如用于测量轻度血友病因子水平的不同检测方法获得的结果不一致。基因检测的进步为诊断以及抑制剂发展的可能性提供了深入了解,而抑制剂在轻度或中度血友病患者中并不罕见,并且会增加发病率。轻度血友病患者的管理是一个挑战。本综述包括了针对这些患者制定治疗计划的建议,涵盖了从新诊断的新生儿的临床护理到患有多种合并症的老年患者的全面范围。管理策略不仅考虑了这些患者需求的巨大差异,还考虑了抑制剂发展的风险以及使患者最佳参与的方法。