From the Guidelines
Investigation for Factor VII deficiency is warranted in patients with unexplained bleeding symptoms, abnormal coagulation tests, or a family history of the disorder, as timely diagnosis and management can significantly impact morbidity, mortality, and quality of life. The indications for investigating Factor VII deficiency include:
- Unexplained epistaxis
- Menorrhagia
- Easy bruising
- Gingival bleeding
- Hemarthrosis
- Excessive bleeding after surgery or trauma
- Neonates with intracranial hemorrhage without trauma These symptoms and conditions may suggest an underlying coagulation disorder, and Factor VII deficiency should be considered in the differential diagnosis 1. Laboratory investigation should include prothrombin time (PT), activated partial thromboplastin time (aPTT), mixing studies, and specific Factor VII activity assays to confirm the diagnosis 1. The severity of bleeding typically correlates with Factor VII activity levels, with severe deficiency (<1%) associated with significant bleeding risk, emphasizing the importance of prompt investigation and management. Investigation is particularly crucial before surgical procedures in at-risk individuals, as prophylactic treatment with recombinant Factor VIIa or plasma-derived concentrates may be necessary to prevent hemorrhagic complications 1.
From the FDA Drug Label
1 INDICATIONS AND USAGE NOVOSEVEN RT, Coagulation Factor VIIa (Recombinant), is indicated for:
• Treatment of bleeding episodes and peri-operative management in adults and children with hemophilia A or B with inhibitors, congenital Factor VII (FVII) deficiency, and Glanzmann’s thrombasthenia with refractoriness to platelet transfusions, with or without antibodies to platelets. The indications for investigating Factor VII (FVII) deficiency are:
- Bleeding episodes
- Peri-operative management in the context of congenital Factor VII (FVII) deficiency 2
From the Research
Indications for Investigating Factor VII (FVII) Deficiency
The following are indications for investigating FVII deficiency:
- Severe bleeding complications, including central nervous system bleeding, gastrointestinal system bleeding, and bleeding into the joints, which occurs in 10-15% of FVII deficient patients 3
- Mucocutaneous bleeding, a common symptom in FVII deficient patients 3
- Heavy menstrual bleeding, which affects 50-69% of women with FVII deficiency 3
- Haemarthroses, which can lead to joint damage and disability if left untreated 4
- CNS bleeding, which is a major indication for long-term prophylaxis in severe FVII deficiency 4
- GI bleeding, which can be life-threatening and requires prompt treatment 4, 5
- Family history of FVII deficiency, as the inheritance is autosomal recessive with variable penetrance 3
- Personal history of bleeding episodes, which can help determine the bleeding risk and plan for surgical and obstetrical prophylaxis 3
Diagnostic Considerations
Laboratory testing for FVII activity is the first-line method for FVII deficiency diagnosis, and is helpful for managing patients in combination with clinical history 6 Additional testing consists of FVII immunoassay and genetic testing, which can help identify quantitative or qualitative defects in the FVII gene 6 However, no single test is able to predict accurately the bleeding risk, and clinical manifestations do not correlate well with FVII plasma levels 3, 6