Almeida A, Khair K, Hann I, Liesner R
Department of Haematology, Great Ormond Street Hospital, Great Ormond Street, London, UK.
Haemophilia. 2002 Sep;8(5):703-5. doi: 10.1046/j.1365-2516.2002.00658.x.
Factor XIII deficiency is a rare inherited bleeding disorder that is often difficult to diagnose. The standard screening tests are normal in these patients and their bleeding phenotype may be variable. We report the case of a 3-year-old girl who presented with an intracranial haemorrhage. Several confounding factors, such as the suspicion of an arteriovenous malformation and the development of a deep venous thrombosis, led to a delay in the diagnosis of factor XIII deficiency. Subsequently, her brother was also found to have severe factor XIII deficiency. This case highlights the importance of a detailed history and of screening families in which index cases have been identified. It should also remind physicians that bleeding disorders may have unusual presentations and should be sought when investigating unexplained bleeding.
凝血因子XIII缺乏症是一种罕见的遗传性出血性疾病，通常难以诊断。这些患者的标准筛查试验结果正常，且其出血表型可能各不相同。我们报告了一名3岁女童颅内出血的病例。诸如怀疑存在动静脉畸形以及出现深静脉血栓形成等多种混杂因素导致凝血因子XIII缺乏症的诊断延迟。随后，还发现她的哥哥患有严重的凝血因子XIII缺乏症。该病例凸显了详细病史以及对已确诊索引病例的家族进行筛查的重要性。它还应提醒医生，出血性疾病可能有不寻常的表现，在调查不明原因出血时应加以排查。
