Research advances in coagulation factor Ⅷ deficiency

Abstract

Abstract:

Coagulation factor Ⅷ (FⅧ) deficiency is a rare bleeding disorder that can manifest as spontaneous or delayed life-threatening hemorrhage. FⅧ is composed of two catalytic subunits (FⅧ-A₂) and two carrier (FⅧ-B₂) subunits that have several functions in addition to its important role in hemostasis, including angiogenesis, maintenance of pregnancy, wound healing, and bone metabolism. FⅧ deficiencies can be classified as congenital or acquired according to etio-logy. The global incidence of congenital FⅧ deficiency is 0.05 per 100 000. Most patients with congenital FⅧ deficiency typically present with FⅧ-A deficiency. Acquired FⅧ deficiency, which typically arises from factors such as hyperconsumption and decreased synthesis, is more common than the congenital form. In rare instances, patients with acquired FⅧ deficiency may develop inhibitors targeting FⅧ subunits. The occurrence can be idiopathic or associated with comorbidities, such as malignancies or autoimmune disorders. A quantitative functional FⅧ activity assay is the first-line screening test for diagnosing FⅧ deficiency. For congenital FⅧ deficiency, enzyme-linked immunosorbent assays (ELISA) are required to determine the type of deficiency and to detect associated molecular genetic mutations. If acquired FⅧ deficiency is suspected, immunological tests are also required to detect inhibitors. Treatment primarily includes FⅧ replacement therapy and/or immunosuppressive therapy. Therapeutic options for FⅧ replacement have evolved from traditional fresh frozen plasma (FFP), old plasma, whole blood, and cryoprecipitate to plasma-derived and recombinant FⅧ concentrates. Although treatment targets and thresholds for FⅧ deficiency have not been clearly established, timely diagnosis and appropriate management of patients with severe FⅧ deficiency can significantly reduce the morbidity and mortality rates.

Key words:Coagulation factor Ⅷ deficiency,Acquired coagulation factor Ⅷ deficiency,Coagulation factor Ⅷ inhibitor,Coagulation disorder

CLC Number:

R554
R446

XIE Liangzhe, DAI Jing, WU Wenman, WANG Xuefeng. Research advances in coagulation factor Ⅷ deficiency[J]. Journal of Diagnostics Concepts & Practice, 2025, 24(05): 542-547.

Figures/Tables3

分类	病理生理学	相关疾病	诊断	治疗
自身免疫性	自身抗体介导的抑制或快速清除	自身免疫性疾病：系统性红斑狼疮、类风湿性关节炎恶性肿瘤：实体瘤、血液系统疾病药物：异烟肼等意义未明的单克隆免疫球蛋白血症等	临床表现：严重出血实验室检查：FⅧ活性<10%，Bethesda试验（中和抗体），结合试验（非中和抗体）	止血治疗：大剂量FⅧ、抗纤溶
非自身免疫性	过度消耗或合成减少	手术、弥散性血管内凝血、炎症性肠病、过敏性紫癜、脓毒血症、血栓形成、肺栓塞、卒中等肝病、白血病药物：丙戊酸钠、托珠单抗等	临床表现：出血不严重实验室检查：FⅧ活性20%~70%，其他凝血因子可能缺乏	+抗体消除：免疫抑制剂、血浆置换

Table1

自身免疫性FⅧ缺乏症的诊断标准
可能：
1、近期出现出血症状，主要发生在老年人
2、无FⅧ或其他凝血因子先天性/遗传性缺陷家族史
3、既往无出血症状，特别是与止血困难相关事件（如手术、侵入性检查、创伤等）
4、与抗凝药和抗血小板药物等无关
5、实验室检测FⅧ参数异常[FⅧ活性和（或）抗原< 50%]
可信：
第1-5项加上存在FⅧ抑制剂（37 ℃培养2 h后，患者和健康对照组血浆交叉混合试验呈阳性）
确诊：
第1-5项加上抗FⅧ自身抗体的存在（免疫方法阳性）

Figure 1

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