A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations

ÖZDEMİR M. , Isik B. , PATIROĞLU T. , KARAKÜKCÜ M. , MUTLU F. T. , Yilmaz E. , ...More

BLOOD COAGULATION & FIBRINOLYSIS, vol.26, no.3, pp.354-356, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 3
  • Publication Date: 2015
  • Doi Number: 10.1097/mbc.0000000000000200
  • Page Numbers: pp.354-356
  • Keywords: afibrinogenemia, thromboembolic complications, treatment, THROMBIN GENERATION, FIBRINOGEN, HYPOFIBRINOGENEMIA, INHIBITION, PLASMA


Although congenital afibrinogenemia is a rare autosomal recessive bleeding disorder, it can be more frequently encountered in countries where consanguineous marriages are common. Congenital afibrinogenemia is characterized by the undetectable low level of fibrinogen, which causes hemorrhagic diathesis. Paradoxically, arterial and venous thromboembolic complications can develop in patients with afibrinogenemia, which may cause a diagnostic problem to anyone unfamiliar with its clinical features. We report a case of congenital afibrinogenemia presenting with bilateral ischemic lesions of bilateral foot and ankle that required amputations. The patient was treated with fibrinogen concentrate, low-molecular-weight heparin, aspirin, and nifedipine. In conclusion, arterial and venous thromboembolic complications are rare, but severe complications of afibrinogenemia. The management of thromboembolic complications in patients with afibrinogenemia is a balance game. At one end of the scale, there is a bleeding disorder, and at the other end, there is a thrombosis. This fine adjustment is a job of mastery. Blood Coagul Fibrinolysis 26: 354-356 Copyright (C) 2015 Wolters Kluwer Health, Inc. All rights reserved.