Congenital hypofibrinogenemia with recurrent thromboembolism: A clinical case report

Abstract

A 33-year-old female with a history of pulmonary embolism was admitted for surgical treatment of an atrial myxoma. The patient developed right atrial thrombosis during the postoperative period, despite the introduction of anticoagulant therapy. Coagulation tests revealed low levels of circulating fibrinogen (FIB) and the genetic analysis showed mutations in the fibrinogen genes FGA, FGB and FGG, which led to a diagnosis of congenital hypofibrinogenemia. The patient was treated with low-molecular-weight heparin (LMWH) whose dose was tightly adjusted according to the anti-Xa factor activity. The clinical response was favorable with reduction of the size of the cardiac thrombus and pulmonary emboli.