title: A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations.
abstract: 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.
authors.affiliation: Department of Pediatrics, Division of Pediatric Hematology and Oncology, Erciyes University, Kayseri, Turkey.
authors.forename: Mehmet A
authors.initials: MA
authors.lastname: Ozdemir
authors.forename: Bilgen
authors.initials: B
authors.lastname: Işik
authors.forename: Turkan
authors.initials: T
authors.lastname: Patiroglu
authors.forename: Musa
authors.initials: M
authors.lastname: Karakukcu
authors.forename: Fatma T
authors.initials: FT
authors.lastname: Mutlu
authors.forename: Ebru
authors.initials: E
authors.lastname: Yilmaz
authors.forename: Ekrem
authors.initials: E
authors.lastname: Unal
mesh_terms: D000347:Afibrinogenemia / Q000150:complications* / Q000188:drug therapy; D000671:Amputation, Surgical; D000740:Anemia / Q000209:etiology; D000925:Anticoagulants / Q000627:therapeutic use; D001780:Blood Coagulation Tests; D018450:Disease Progression; D017984:Enoxaparin / Q000627:therapeutic use; D005260:Female; D005340:Fibrinogen / Q000627:therapeutic use; D005528:Foot / Q000098:blood supply* / Q000601:surgery; D006493:Heparin / Q000627:therapeutic use; D006801:Humans; D007511:Ischemia / Q000209:etiology / Q000601:surgery*; D009336:Necrosis; D012008:Recurrence; D014034:Toes / Q000098:blood supply* / Q000601:surgery; D055815:Young Adult
chemical_list: D000925:Anticoagulants; D017984:Enoxaparin; D005340:Fibrinogen; D006493:Heparin