Badyal Rama K, Jain Kanupriya, Mandrelle Kavita, John M J, Kakkar Naveen, Bose Sunil K, Kumar Narender, Ahluwalia Jasmina
aDepartment of Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh bDepartment of Obstetrics and Gynecology cDepartment of Clinical Hematology, Hemato Oncology and Bone Marrow Transplant Unit dDepartment of Pathology, Christian Medical College & Hospital, Ludhiana, Punjab eDepartment of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Blood Coagul Fibrinolysis. 2015 Sep;26(6):703-6. doi: 10.1097/MBC.0000000000000303.
Factor V deficiency is a rare autosomal recessive coagulation disorder. We report a case with inherited factor V deficiency presenting as life-threatening recurrent hemoperitoneum, following bleeding from ruptured corpus haemorrhagicum. Prolonged prothrombin and activated partial thromboplastin times, normal thrombin time and a normal platelet count pointed towards a disorder of coagulation. Mixing studies with factor V deficient plasma and coagulation factor assay revealed markedly reduced plasma factor V clotting activity. The management included blood, plasma and tranexamic acid. Family screening revealed low factor V levels in her parents. Although her brother had significant Factor V deficiency and epistaxis, he did not need hospitalization or replacement, indicating the varied manifestation of this bleeding defect in this family.
因子V缺乏症是一种罕见的常染色体隐性凝血障碍。我们报告一例遗传性因子V缺乏症患者,该患者因出血性黄体破裂后反复出现危及生命的腹腔积血。凝血酶原时间和活化部分凝血活酶时间延长,凝血酶时间正常,血小板计数正常,提示存在凝血障碍。与因子V缺乏血浆的混合试验及凝血因子测定显示血浆因子V凝血活性明显降低。治疗措施包括输血、输注血浆和使用氨甲环酸。家族筛查发现其父母的因子V水平较低。尽管她的哥哥有明显的因子V缺乏症并出现鼻出血,但他无需住院或进行替代治疗,这表明该家族中这种出血缺陷的表现存在差异。