Sarhan Fajr M A, Al-Jasim Ameer, Alwahsh Raghad H M, Mansour Islam I A
Al-Quds University, School of Medicine, East Jerusalem, West Bank, Palestine.
University of Baghdad, School of Medicine, Baghdad, Iraq.
Ann Med Surg (Lond). 2022 May 5;78:103723. doi: 10.1016/j.amsu.2022.103723. eCollection 2022 Jun.
Factor V deficiency is a rare bleeding disorder with varying presentations from minor mucosal bleeding to a life-threatening postoperative bleed. Currently, treatment is mainly supportive with Fresh Frozen Plasma.
A previously healthy 14-day-old male presented with an uncontrollable bleeding following a circumcision. Physical examination was normal. Investigations showed hemoglobin 15.5 g/dl, platelets 409000, Prothrombin Time 57 seconds, Partial-Thromboplastin-Time 120 seconds. Mixing study corrected the coagulation profile, and the factor assay showed factor V activity of 11%. Genetic testing showed a pathogenic frameshift mutation in the 27Lfs causing premature termination after 7 codons thus the diagnosis of Factor V deficiency was made.
In this case, factor V deficiency presented as post-circumcision bleeding. For diagnosis, increased PT and PTT with normal thrombin time increases the index of suspicion for a bleeding disorder. Further testing with coagulation factors assays is required to make the final diagnosis. Factor V deficient patients undergoing surgery should be adequately prepared, and factor V activity level should be maintained at least at 25% of the normal activity level. The patient level prior to the circumcision was unknown, which led to the life threatening bleed.
One of the early presentations of factor V deficiency is a post-circumcision bleeding. Adequate preparation with laboratory tests before circumcision is therefore recommended, especially for high-risk individuals. More than 100 genetic mutations were detected; frameshift mutation involving F5 gene p.(P927Lfs*7) was seen in our case.
因子V缺乏症是一种罕见的出血性疾病，表现各异，从轻微的黏膜出血到危及生命的术后出血。目前，治疗主要采用新鲜冷冻血浆进行支持治疗。
一名14天大的健康男婴在包皮环切术后出现无法控制的出血。体格检查正常。检查结果显示血红蛋白15.5 g/dl，血小板409000，凝血酶原时间57秒，部分凝血活酶时间120秒。混合试验纠正了凝血指标，因子检测显示因子V活性为11%。基因检测显示27Lfs处存在致病性移码突变，导致7个密码子后提前终止，从而确诊为因子V缺乏症。
在本病例中，因子V缺乏症表现为包皮环切术后出血。对于诊断，凝血酶原时间和部分凝血活酶时间延长而凝血酶时间正常会增加对出血性疾病的怀疑指数。需要进一步进行凝血因子检测以做出最终诊断。接受手术的因子V缺乏症患者应做好充分准备，因子V活性水平应至少维持在正常活性水平的25%。包皮环切术前患者的因子V活性水平未知，这导致了危及生命的出血。
因子V缺乏症的早期表现之一是包皮环切术后出血。因此，建议在包皮环切术前进行充分的实验室检查准备，尤其是对于高危个体。已检测到100多种基因突变；我们的病例中发现了涉及F5基因p.(P927Lfs*7)的移码突变。
