Al-Sharif Fahad Z, Aljurf Mahmoud D, Al-Momen Abdulkarim M, Ajlan Abdulmajeed M, Musa Mohammed O, Al-Nounou Randa M, Al-Mohareb Fahad I, Alomar Hamad M, Zaidi Zyed Z, Al-Zahrani Hazzaa A
Department of Oncology, Adult Hematology/BMT, King Faisal Specialist Hospital & Research Center, MBC-64, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia.
Saudi Med J. 2002 May;23(5):552-4.
This is a retrospective analysis of the clinical and laboratory features of 17 cases of factor XIII deficiency that were followed in tertiary care hospitals in Riyadh, Kingdom of Saudi Arabia, over 20 years. Cases were referred to these hospitals from other health care centers in the country.
We performed a retrospective analysis of 17 cases of factor XIII deficiency comprising 11 males and 6 females, who were seen over a period of 20 years (1978-1998) in Riyadh, Kingdom of Saudi Arabia. Data variables including age, sex, origin, clinical presentation, bleeding time, prothrombin time, partial thromboplastin time, factor XIII screening and assay, hemoglobin, and platelet count were collected and analyzed. The diagnosis of factor XIII deficiency was made by urea clot lysis test alone in one patient and urea clot lysis test in combination with factor XIII quantitative assay in 16 patients.
Eleven patients were males and 6 were females. Median age at the time of diagnosis was 9 years (3-29 years). Ten patients (59%) had a family history of excessive bleeding. Presenting symptoms included ecchymosis and recurrent hematomas in 12 patients (71%), bleeding after circumcision in 6 male patients (55%), umbilical stump bleeding in 7 (41%), poor wound healing and keloids in 3 patients (18%), and intracranial bleeding in 3 patients (18%). Other manifestations included cephalohematoma, abortion, abruptio placenta, and intraperitoneal bleeding (one patient each). Laboratory evaluation revealed a normal prothrombin time, partial thromboplastin time, bleeding time and platelet count in all patients. Factor XIII screening test was positive in all 17 patients tested and assay for factors XIII was <0.06 U/ml in 16 patients tested.
Our data confirms that factor XIII deficiency is a rare bleeding disorder characterized by variable bleeding manifestations but consistent laboratory findings. The occurrence of keloid in our patient group may reflect the poor quality of the clotting, associated with loss of tensile strength of fibrin polymers, caused by factor XIII deficiency and leading to abnormally large scar formation.
这是一项对沙特阿拉伯王国利雅得三级医疗医院20多年来随访的17例凝血因子XIII缺乏症患者的临床和实验室特征进行的回顾性分析。这些病例是从该国其他医疗中心转诊至这些医院的。
我们对17例凝血因子XIII缺乏症患者进行了回顾性分析，其中包括11名男性和6名女性，他们于1978年至1998年期间在沙特阿拉伯王国利雅得接受了为期20年的诊治。收集并分析了包括年龄、性别、籍贯、临床表现、出血时间、凝血酶原时间、部分凝血活酶时间、凝血因子XIII筛查和测定、血红蛋白以及血小板计数等数据变量。1例患者仅通过尿素凝块溶解试验确诊为凝血因子XIII缺乏症，16例患者通过尿素凝块溶解试验结合凝血因子XIII定量测定确诊。
11例为男性，6例为女性。诊断时的中位年龄为9岁（3至29岁）。10例患者（59%）有出血过多的家族史。主要症状包括12例患者（71%）出现瘀斑和反复血肿，6例男性患者（55%）包皮环切术后出血，7例患者（41%）脐带残端出血，3例患者（18%）伤口愈合不良和瘢痕疙瘩形成，3例患者（18%）颅内出血。其他表现包括头颅血肿、流产、胎盘早剥和腹腔内出血（各1例）。实验室评估显示所有患者的凝血酶原时间、部分凝血活酶时间、出血时间和血小板计数均正常。17例接受检测的患者凝血因子XIII筛查试验均为阳性，16例接受检测的患者凝血因子XIII测定值<0.06 U/ml。
我们的数据证实，凝血因子XIII缺乏症是一种罕见的出血性疾病，其特征为出血表现多样但实验室检查结果一致。我们患者组中瘢痕疙瘩的出现可能反映了由凝血因子XIII缺乏导致的凝血质量差，与纤维蛋白聚合物抗张强度丧失有关，进而导致异常大的瘢痕形成。
