✅ Model Answer:
• Diagnosis: Factor VII deficiency (isolated prolonged PT, normal PTT). Easy bruising and epistaxis are classic presentations.
• Any other test: Factor VII assay, genetic testing (F7 gene), factor VII inhibitor (Bethesda assay) if poor response to treatment.
• What to do next: For bleeding: recombinant factor VIIa (rFVIIa) 15-30 mcg/kg IV q4-6h. For major surgery: FFP or rFVIIa. For minor procedures: tranexamic acid.
• Follow-up plan: Monitor factor VII levels. Avoid aspirin/NSAIDs. If severe deficiency, consider prophylaxis with rFVIIa or FFP for major surgeries. Genetic counseling.

✅ Model Answer:
• Gene: F7 gene located on chromosome 13 (13q34).
• Inheritance: Autosomal recessive (most common); autosomal dominant forms are rare.
• Prevalence: Rare (1 in 300,000 to 1 in 500,000).
• Mutations: More than 200 mutations identified (missense, nonsense, splice-site, deletions).
• Protein: Factor VII is a vitamin K-dependent serine protease in the extrinsic coagulation pathway. It forms a complex with tissue factor (TF) to activate factor X.
• Pathophysiology: Deficiency leads to impaired extrinsic pathway, causing prolonged PT and bleeding tendency.

✅ Model Answer:
• Bleeding manifestations:
- Easy bruising: Spontaneous or after minor trauma (most common).
- Epistaxis: Frequent nosebleeds (especially in children).
- Mucocutaneous bleeding: Gingival bleeding, menorrhagia.
- Post-surgical bleeding: Prolonged bleeding after circumcision, dental extractions, or surgery.
- Intracranial hemorrhage: Life-threatening, especially in neonates (severe deficiency).
- Hemarthrosis: Less common than in hemophilia.
- Gastrointestinal bleeding: Can occur in severe cases.
• Severity: Variable – poor correlation between factor VII levels and bleeding phenotype (unlike other clotting factors).
• Age of onset: Neonatal period (intracranial hemorrhage, umbilical stump bleeding) to childhood (bruising, epistaxis).

✅ Model Answer:
• Initial screening:
- PT: Prolonged (extrinsic pathway defect).
- PTT: Normal (intrinsic pathway intact).
- Platelet count: Normal.
• Specific tests:
- Factor VII assay: Low factor VII levels (normal >70%).
- Factor II, IX, X assays: Normal (to rule out other vitamin K-dependent factor deficiencies).
- Vitamin K levels: Normal (to rule out vitamin K deficiency).
- Genetic testing: F7 gene mutation analysis (for confirmation and family screening).
- Bethesda assay: To detect factor VII inhibitors (rare).
- Liver function tests: To rule out liver disease (which can cause low factor VII).

✅ Model Answer:
• Recombinant factor VIIa (rFVIIa – NovoSeven):
- Dose: 15-30 mcg/kg IV q4-6h (for acute bleeding) or 90-120 mcg/kg q2-3h for major bleeding/surgery.
- Advantage: Purified, no risk of viral transmission, rapid onset.
- Indication: Acute bleeding, surgery, or prophylaxis.
• Fresh Frozen Plasma (FFP):
- Dose: 15-25 mL/kg IV (raises factor VII by ~15-20%).
- Limitations: Volume overload, transfusion reactions.
• Prothrombin Complex Concentrate (PCC):
- Contains factor VII, but not always preferred (risk of thrombosis).
• Tranexamic acid:
- Indication: Mucosal bleeding, minor procedures (as adjunct).
- Dose: 25-50 mg/kg/day.
• Vitamin K: Not effective (deficiency is not due to vitamin K deficiency).

✅ Model Answer:
• Intracranial hemorrhage: Most feared complication, especially in neonates and severe deficiency.
• Post-surgical bleeding: After circumcision, dental extractions, or major surgery.
• Chronic iron deficiency anemia: Due to recurrent epistaxis and menorrhagia.
• Inhibitor development: Antibodies against factor VII (rare).
• Thrombosis: Rare, but can occur with rFVIIa (especially in high doses).
• Joint bleeding: Less common than in hemophilia, but can occur.
• Death: From intracranial hemorrhage if untreated.

✅ Model Answer:
• Prognosis:
- Variable: Depends on severity of deficiency and bleeding phenotype.
- Mild-moderate deficiency: Excellent prognosis with on-demand treatment.
- Severe deficiency: High risk of intracranial hemorrhage; requires prophylactic rFVIIa.
- Life expectancy: Normal with appropriate management.
- Morbidity: Mainly from recurrent epistaxis, bruising, and post-surgical bleeding.
• Long-term follow-up:
- Monitor factor VII levels: Especially before surgery or during pregnancy.
- Prophylaxis: For severe deficiency (rFVIIa every 1-3 days).
- Avoid aspirin/NSAIDs: To reduce bleeding risk.
- Manage menorrhagia: Tranexamic acid, oral contraceptives.
- Genetic counseling: Autosomal recessive (25% recurrence risk).

✅ Model Answer:
• rFVIIa (NovoSeven): Recombinant activated factor VII used to bypass the need for factor VII.
• Mechanism: Binds to tissue factor (TF) at the site of injury, activating factor X → thrombin generation → hemostasis.
• Indications in Factor VII deficiency:
- Acute bleeding: 15-30 mcg/kg IV q4-6h (or 90-120 mcg/kg for severe bleeding).
- Prophylaxis: 15-30 mcg/kg every 1-3 days (for severe deficiency).
- Major surgery: 15-30 mcg/kg q2-4h (or continuous infusion).
• Advantages:
- No risk of viral transmission (recombinant).
- No need for blood group matching.
- Rapid onset of action.
• Side effects:
- Thrombosis: Rare (especially in patients with risk factors).
- Inhibitor development: Antibodies against rFVIIa (very rare).
• Monitoring: No routine coagulation monitoring needed; monitor clinically for bleeding control.