History
Most severe cases of factor VII (FVII) deficiency are diagnosed during childhood, often during the first 6 months of life. In infancy, the most common bleeds occur in the GI tract or CNS, accounting for 60-70% of bleeds in this age group. Spontaneous hemarthrosis also presents more frequently in children younger than 5 years (occurring in 20% of patients with factor VII deficiency). These children usually have factor VII levels of more than 2%.
The most common bleeding manifestations involve easy bruising and mucosal bleeding, particularly epistaxis or oral mucosal bleeding. Women are over represented among symptomatic patients because of menorrhagia (as high as 60%). Postoperative bleeding is also common, reported in association with 30% of surgical procedures, including procedures for which replacement therapy was administered.
Thrombosis in inherited factor VII deficiency has been reported; most, but not all, cases are associated with the administration of factor VII replacement therapy and/or surgical procedures.
Physical
The physical manifestations are related to bleeding and include the following:
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Mucosal bleeding: Epistaxis and bleeding from the oral cavity or GI tract have been observed.
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Menorrhagia and associated anemia
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Hemarthrosis: Patients with hemarthrosis have the same clinical presentation as those with hemophilia. Recurrent hemarthroses can lead to joint damage and chronic arthropathy.
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Bruising, soft tissue hematomas
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Neurologic findings commensurate with CNS bleeding, particularly in infants
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Intrinsic and extrinsic pathways of coagulation. Factor VII/tissue factor complex activates factor IX and factor X. Factor IXa along with factor VIIIa results in formation of more factor Xa. Factor Xa along with factor Va converts prothrombin to thrombin.
