Bendarkawi Yasmine, Mamad Hassane, Berchane Zakia, Benkirane Souad, Masrar Azlarab
Faculty of Medicine and Pharmacy Laboratoire Central d'Hématologie, Centre Hospitalier Universitaire Ibn Sina de Rabat, Rabat, Morocco.
Laboratoire d'Hématologie, Faculté de Médecine Et de Pharmacie, Université Mohammed V de Rabat, 10170, Rabat, Morocco.
J Med Case Rep. 2025 Apr 28;19(1):194. doi: 10.1186/s13256-025-05251-w.
Combined deficiency of factors V and VIII is a rare autosomal recessive disorder associated with an increased risk of bleeding. We present an unusual case of a 7-year-old Moroccan child with no history of consanguinity who was hospitalized owing to a hemorrhagic episode during circumcision.
The 7-year-old patient, a Moroccan boy from North Africa, coming from a family of five siblings, was referred for an evaluation of prolonged activated partial thromboplastin time and prothrombin time. Coagulation factor assays revealed a combined deficiency of factors V and VIII, with normal levels of other coagulation factors. This anomaly was detected in the hematology laboratory, where hemostasis tests were performed via optical methods on the Acl Top 750 analyzer. A complete blood count was conducted on the Beckman Coulter DXH 900 analyzer. Hemostasis assessments revealed an elevated activated partial thromboplastin time at 73.2 s (normal range < 36), with a patient-to-control activated partial thromboplastin time ratio of 2.58 (normal ratio < 1.2), a low prothrombin time at 18.35 s (normal prothrombin time range: 11.4-13.5), and an international normalized ratio of 1.59 (normal range: 2-3.5). Specific coagulation factor assays demonstrated a combined deficiency of factors V and VIII at 12.4% (normal range: 55-150) and 9.1% (normal range: 50-145), respectively, whereas other coagulation factor levels remained within the normal range, including the antigenic activity of von Willebrand at 71.7% (normal range: 50-150). The complete blood count showed no abnormalities, except for a small thrombocytosis. The child was managed in the pediatric hematology department, and a family investigation among the remaining siblings was initiated to search for similar cases.
Our study highlights a rare and often underdiagnosed genetic disorder that is often confused with a diagnosis of minor hemophilia A or congenital factor V deficiency. Differential diagnosis is crucial, particularly for von Willebrand disease. Combined deficiency of factors V and VIII should be suspected in patients with a suggestive clinical and laboratory profile, including prolonged prothrombin time and activated partial thromboplastin time along with a deficiency in coagulation factor V. Therefore, measuring factor VIII levels is highly recommended.
凝血因子V和VIII联合缺乏是一种罕见的常染色体隐性疾病，与出血风险增加相关。我们报告了一例不寻常的病例，一名7岁的摩洛哥儿童，无近亲结婚史，因包皮环切术中出血发作而住院。
这名7岁患者是一名来自北非的摩洛哥男孩，来自一个有五个兄弟姐妹的家庭，因活化部分凝血活酶时间和凝血酶原时间延长而前来接受评估。凝血因子检测显示凝血因子V和VIII联合缺乏，其他凝血因子水平正常。这种异常是在血液学实验室检测到的，在那里通过光学方法在Acl Top 750分析仪上进行止血测试。在贝克曼库尔特DXH 900分析仪上进行全血细胞计数。止血评估显示活化部分凝血活酶时间延长至73.2秒（正常范围<36），患者与对照的活化部分凝血活酶时间比值为2.58（正常比值<1.2），凝血酶原时间缩短至18.35秒（正常凝血酶原时间范围：11.4 - 13.5），国际标准化比值为1.59（正常范围：2 - 3.5）。特异性凝血因子检测显示凝血因子V和VIII联合缺乏，分别为12.4%（正常范围：55 - 150）和9.1%（正常范围：50 - 145），而其他凝血因子水平仍在正常范围内，包括血管性血友病因子的抗原活性为71.7%（正常范围：50 - 150）。全血细胞计数除轻度血小板增多外无异常。该患儿在儿科血液科接受治疗，并对其余兄弟姐妹展开家族调查以寻找类似病例。
我们的研究强调了一种罕见且常被漏诊的遗传性疾病，该疾病常被误诊为轻度血友病A或先天性凝血因子V缺乏。鉴别诊断至关重要，尤其是对于血管性血友病。对于具有提示性临床和实验室特征的患者，包括凝血酶原时间和活化部分凝血活酶时间延长以及凝血因子V缺乏，应怀疑凝血因子V和VIII联合缺乏。因此，强烈建议检测凝血因子VIII水平。
