Basics of Factor VII Deficiency

Introduction

• Speaker: Dr. Suchitra Acharya, Kohen Children's Medical Center of New York
• Discusses Factor VII in clotting, clinical presentation, diagnostic testing, treatment options, and focuses on women with Factor VII deficiency.

Real World Case Vignette

• A 7-year-old female with prolonged bleeding after tooth extraction.
• History of bilateral ankle pain and swelling.
• 10-year-old brother also with joint pain, swelling, and severe nosebleed.
• Parents are first cousins from Ecuador.

Role of Factor VII in Clotting

• Blood vessel injury activates platelets and clotting proteins.
• Tissue factor activates Factor VII leading to clot formation.
• Factor VII is crucial for forming a tensile fibrin clot to initiate healing.

Epidemiology

• Factor VII deficiency is a rare bleeding disorder, 1.5 per million.
• Highest prevalence in regions with high consanguinity rates (40-85%).
• Autosomal recessive inheritance: both parents must carry the mutation.

Clinical Presentation

• Factor VII levels do not correlate with bleeding symptoms.
• Majority have no symptoms; others can have minor or severe symptoms.
• Sites of bleeding include skin, joints, gastrointestinal, and intracranial areas.

Diagnosis

• Screening: Complete blood count, Prothrombin Time (PT) prolonged in Factor VII deficiency.
• Factor VII activity assay and antigen test confirm diagnosis.
• Genetic testing for mutation identification.

Treatment Options

• Recombinant Factor VIIa: Effective but frequent dosing needed.
• Fresh Frozen Plasma: Less preferred due to volume and infection risks.
• Prothrombin Complex Concentrates: Low volume, risk of thrombosis.
• Anti-fibrinolytic Agents: Amino caproic acid, tranexamic acid strengthen clots.

Treatment Strategy

• On-demand vs Prophylaxis: Based on bleeding severity and frequency.
• Prophylaxis recommended in severe cases.

Prophylaxis in Factor VII Deficiency

• Primary: Prevents first major bleed.
• Secondary: Prevents recurrence after a bleed.
• Indicated for severe deficiency, especially in infants or recurrent joint bleeding.

Factor VII Deficiency in Girls and Women

• High risk during menses, pregnancy, and postpartum.
• Management of heavy menstrual bleeding with recombinant Factor VIIa or hormonal methods.
• Pregnancy managed at bleeding disorder centers; careful monitoring required.
• Epidural anesthesia possible with adequate Factor VII levels.

Case Conclusion

• Patient had severe Factor VII deficiency with 2% activity.
• Treated effectively with recombinant Factor VIIa and amino caproic acid.
• Started on secondary prophylaxis to prevent joint bleeds.

Conclusion

• Importance of ongoing management and comprehensive care.
• Session evaluation encouraged to improve future webinars.