Successful living‐related kidney transplantation in a boy with inherited dysfibrinogenemia

Abstract

In kidney transplantation, it is essential to avoid acute vascular complications, such as hemorrhage and renal vascular thrombosis, which may often lead to allograft loss. Inherited dysfibrinogenemia is a rare coagulation disorder with a wide spectrum of clinical manifestations, such as excessive bleeding and thrombosis. A 12-yr-old boy, previously diagnosed with renal hypodysplasia, was found to have reduced fibrinogen concentrations. Coagulation tests assessing surgical risk during kidney transplantation showed a discrepancy between functional and immunologic fibrinogen concentrations. Gene analysis confirmed inherited dysfibrinogenemia, with a heterozygous mutation in FGA (Aα Arg16His) in the patient and his mother. Based on the molecular and functional properties of the mutation, and a familial phenotype, in which his aunt had experienced a previous bleeding episode, the patient was considered at greater risk of bleeding than of thrombosis. The patient was administered fibrinogen concentrate before surgery, and kidney transplantation was performed with his father as the organ donor. The patient received additional prophylactic infusions of fibrinogen concentrate postoperatively, and his postoperative course was uneventful. Accurate diagnosis of dysfibrinogenemia, including gene analysis, is important for correctly managing patients with this coagulation disorder who are undergoing kidney transplantation.

Dysfibrinogenemia in a patient undergoing artificial abortion after misdiagnosis and review of the literature

“…After consultation, medical experts from various disciplines did not recommend special treatment and the patient's subsequent vaginal delivery was smooth. Imamura et al [20] also described a patient with dysfibrinogenemia. Her mother's sister exhibited excessive fracture-induced bleeding.…”

“…It is often recommended that fibrinogen concentrations are increased to 1 g/l and maintained at this concentration until hemostasis is secure [10]. However, treatment for dysfibrinogenemia was suggested to be personalized, especially in pregnant patients and patients undergoing surgery [20]. The United Kingdom Haemophilia Centre Doctors' Organisation recommends that treatment should involve consideration of whether bleeding or thrombotic events are present in the patient's personal or family history [10].…”

A low-dose therapy of fibrinogen supplement during perioperative period of total knee arthroplasty in an asymptomatic man with congenital dysfibrinogenemia: A case report

“…The phenomenon of actual lower than expected fibrinogen activity has been found in previous studies according to subtle changes in fibrinogen activity. [ 12 , 13 ] The observation has supported that dysfunctional fibrinogen may interfere with the function of replacing fibrinogen. [ 6 ] As this case shows, during the first course, changes in the level of fibrinogen and FDP would suggest hyperfibrinolysis given the management of low fibrinogen.…”