Niblock A, Donnelly K, Sayers F, Winter P, Benson G
Northern Ireland Haemophilia Comprehensive Care Centre, Belfast City Hospital, Lisburn Road, Belfast BT10 7AB, UK.
Department of Orthopaedics, Royal Victoria Hospital, Grosvenor Road, Belfast BT12 6BA, UK.
Case Rep Emerg Med. 2016;2016:3263261. doi: 10.1155/2016/3263261. Epub 2016 May 31.
Bleeding disorders can present at any age and vary in their severity. Haemophilia, which is characterised by its x-linked recessive inheritance, can present with a spontaneous mutation and therefore no family history will be evident. Three cases of trauma induced thigh haematomas as an initial presenting feature for people with haemophilia are discussed. The cases highlight the importance of a coagulation screen if the patients bleeding phenotype does not match the injury sustained. An isolated prolonged APTT with no offending anticoagulant cause should always be investigated to look for underlying haemophilia. Interestingly the cases demonstrate the limitations of a coagulation screen. Factor VIII being an acute phase reactant can result in the fact that the initial coagulation screen may be temporarily normal. Therefore, if there is a high index of suspicion for a bleeding disorder, consider repeating the coagulation screen and seeking haematology opinion. Early diagnosis and appropriate specific factor replacement for an injured haemophiliac prevent haematomas expanding thus avoiding potential complications like compartment syndrome or unnecessary surgical input.
出血性疾病可在任何年龄出现,严重程度各不相同。血友病以X连锁隐性遗传为特征,可因自发突变而出现,因此可能没有明显的家族病史。本文讨论了3例以创伤性大腿血肿为血友病患者首发特征的病例。这些病例强调了在患者出血表型与所受损伤不相符时进行凝血筛查的重要性。对于孤立性APTT延长且无抗凝药物相关病因的情况,应始终进行检查以寻找潜在的血友病。有趣的是,这些病例显示了凝血筛查的局限性。因子VIII作为一种急性期反应物,可能导致初始凝血筛查暂时正常。因此,如果高度怀疑存在出血性疾病,应考虑重复进行凝血筛查并寻求血液学专家的意见。对受伤的血友病患者进行早期诊断和适当的特异性因子替代治疗可防止血肿扩大,从而避免潜在并发症,如骨筋膜室综合征或不必要的手术干预。