Tunis Med. 2022;100(1):60-65.
Factor XI deficiency is a rare coagulation disorder with variable bleeding manifestations.
To evaluate the correlation between the degree of factorXI deficiency and the clinical expression of the disease.
Retrospective study, spanning 10 years from January 1, 2010 to December 31, 2019, concerning patients followed at the Hemophilia Center at Aziza Othmana Hospital in Tunis. The data were collected from the medical records. The determination of PT, APTT, fibrinogen level and coagulation factors are performed by coagulometric technique on STA® compact / ACL TOP®. FactorXI deficiency was confirmed on two different samples. Statistical analysis of the clinical-biological correlation was performed using the chi-square test. The significance level was 0.05.
Twenty patients were collected. The mean age of discovery was 25 years with a sex ratio (M/F) =0.33. The circumstances of discovery were incidental in 14 patients. A family history of bleeding was reported in 30% of cases. Eight patients underwent surgery, six of whom had a simple postoperative course. The APTT was prolonged and isolated in 75% of cases. The hemostasis test was normal in 5 cases. The average FactorXI level was 24%. The tendency to bleed did not seem to be correlated with FactorXI levels.
Prospective multicenter studies including molecular study would be necessary to better elucidate this rare disorder.
因子 XI 缺乏症是一种罕见的凝血障碍，具有不同的出血表现。
评估因子 XI 缺乏的程度与疾病临床表现之间的相关性。
回顾性研究，时间跨度为 2010 年 1 月 1 日至 2019 年 12 月 31 日，涉及在突尼斯阿齐扎·奥斯曼娜医院血友病中心接受治疗的患者。数据从病历中收集。PT、APTT、纤维蛋白原水平和凝血因子的测定采用STA®compact/ACL TOP®上的凝血酶法进行。因子 XI 缺乏症在两个不同的样本上得到确认。使用卡方检验对临床-生物学相关性进行统计学分析。显著性水平为 0.05。
共收集了 20 名患者。发现时的平均年龄为 25 岁，性别比（M/F）=0.33。14 名患者为偶然发现。30%的病例有家族出血史。8 名患者接受了手术，其中 6 名患者术后过程简单。75%的患者 APTT 延长且孤立，5 例止血试验正常。平均因子 XI 水平为 24%。出血倾向似乎与因子 XI 水平无关。
有必要开展包括分子研究在内的前瞻性多中心研究，以更好地阐明这种罕见疾病。
