Laboratory Tests: The initial workup should include fibrinogen assays (activity and concentration) and measurement of the prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), and reptilase time (RT). Genetic analysis should be used to confirm the diagnosis. Fibrinogen activity is measured by the Clauss fibrinogen assay or derived from the change in light scatter or transmission during measurement of the PT time (PT - derived fibrinogen). The latter test is not recommended for hemostatic investigations as it may overestimate fibrinogen in patients with dysfibrinogenemia. In most cases, congenital dysfibrinogenemia results in prolonged thrombin and reptilase clotting times.
Clinical Manifestations: Patients with congenital dysfibrinogenemia may be asymptomatic, or they may present with bleeding symptoms, such as mucocutaneous bleeding, traumatic bleeding, or surgical bleeding. Some patients may also have venous or arterial thrombosis.
Family History: Since congenital dysfibrinogenemia is usually an autosomal - dominant genetic disease, a family history of the disease is helpful for diagnosis.
Management5
Treatment of Bleeding Symptoms: When clinically significant bleeding occurs, replacement therapy is indicated. Fresh frozen plasma (FFP) or cryoprecipitate can be administered, depending on bleeding severity and product availability.
Treatment of Thrombotic Symptoms: Venous thromboembolism secondary to congenital dysfibrinogenemia should be treated with low - molecular - weight heparin. Patients with recurrent thrombotic events may require long - term anticoagulation with warfarin or subcutaneous heparin. However, long - term treatment recommendations have not been established, and there is a lack of data to support the superiority of any one treatment modality.
Management During Pregnancy: The obstetric complications of dysfibrinogenemia include first - trimester pregnancy loss, along with hemorrhage, placental abruption, and thrombosis. Administration of prophylactic cryoprecipitate or fibrinogen concentrates may prevent recurrent miscarriages. Pregnant women with dysfibrinogenemia require a multidisciplinary approach involving hematologists and maternal - fetal medicine experts.