Le Quellec S, Desjonqueres A, Rugeri L, Desmurs Clavel H, Farhat F, Mechtouff L, Dargaud Y
1Unité d'Hémostase Clinique, Hôpital Cardiologique Louis Pradel, 28, avenue Doyen J. Lepine, Bron, F-69500 Lyon, France.
2Service de Médecine Interne, Hôpital Edouard Herriot, Lyon, France.
Thromb J. 2018 Apr 4;16:6. doi: 10.1186/s12959-018-0162-8. eCollection 2018.
Patients with congenital afibrinogenemia suffer from spontaneous recurrent severe bleeding. While fibrinogen concentrates are known to effectively treat bleeding episodes, thrombotic complications often occur upon replacement therapy, rendering clinical management highly challenging.
We hereby report a case of combined afibrinogenemia and congenital antithrombin deficiency manifested by recurrent life-threatening bleeding, as well as spontaneous severe arterial occlusion, such as acute coronary syndrome and stroke, and venous thromboses like pulmonary embolism.Secondary fibrinogen prophylaxis is recommended following any initial life-threatening bleeding episode in patients with afibrinogenemia, yet the high associated risk of thrombosis illustrates the complexity of choosing the most effective prophylaxis strategy combining fibrinogen concentrate with antithrombotic agent for optimal protection against the risk of both severe bleeding and thrombosis. For our patient, the thrombin generation assay objectively confirmed her prothrombotic tendency.
This case may help us better understand the pathophysiology of arterial thrombosis in afibrinogenemia, while highlighting the difficulty of managing such complications.
先天性纤维蛋白原血症患者会出现自发性反复严重出血。虽然已知纤维蛋白原浓缩物可有效治疗出血发作，但替代治疗时血栓形成并发症经常发生，这使得临床管理极具挑战性。
我们在此报告一例合并纤维蛋白原血症和先天性抗凝血酶缺乏症的病例，其表现为反复出现危及生命的出血，以及自发性严重动脉闭塞，如急性冠状动脉综合征和中风，还有静脉血栓形成，如肺栓塞。对于纤维蛋白原血症患者，在任何首次危及生命的出血发作后，建议进行二级纤维蛋白原预防，但血栓形成的高相关风险说明了选择将纤维蛋白原浓缩物与抗血栓药物相结合的最有效预防策略以最佳预防严重出血和血栓形成风险的复杂性。对于我们的患者，凝血酶生成试验客观地证实了她的血栓形成倾向。
该病例可能有助于我们更好地理解纤维蛋白原血症中动脉血栓形成的病理生理学，同时突出了管理此类并发症的困难。
