🧬 Chapter 525 · Hereditary Clotting Factor Deficiencies (Bleeding Disorders)

Nelson Textbook of Pediatrics 22nd Edition | Hemophilia A (FVIII) and B (FIX): X-linked, severity: severe (<1%), moderate (1-5%), mild (5-40%). Treatment: factor replacement (recombinant, plasma-derived, extended half-life), emicizumab (bispecific antibody) for hemophilia A with inhibitors. Gene therapy (valoctocogene roxaparvovec for A, etranacogene dezaparvovec for B). Other deficiencies: factor XI (autosomal, bleeding with surgery), factor VII (autosomal, variable), factor X, factor V, combined FV+FVIII (LMAN1/MCFD2), fibrinogen disorders, factor XIII (umbilical stump bleeding).

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📋 30 Clinical Scenarios — Hereditary Clotting Factor Deficiencies

📇 High‑Yield Review Cards (Factor Deficiencies)

🩺 Clinical Recognition: Factor Deficiencies

Select a presentation for diagnostic clues and management.

📋 Stepwise Management of Clotting Factor Deficiencies

🔑 Key Principles — Nelson Chapter 525
• Hemophilia A and B: Factor VIII/IX replacement (dosing: FVIII: IU = desired % raise × kg × 0.5; FIX: IU = desired % raise × kg × 1.3). Prophylaxis for severe disease. Emicizumab (bispecific antibody) for hemophilia A with inhibitors. Gene therapy for adults.
• Factor XI deficiency: Antifibrinolytics (tranexamic acid) for minor bleeding/surgery. FFP or factor XI concentrate for major surgery.
• Factor VII deficiency: Recombinant factor VIIa (rFVIIa) 15-30 mcg/kg.
• Factor XIII deficiency: FXIII concentrate (20-40 U/kg) q4weeks prophylaxis. Cryoprecipitate or FFP if concentrate unavailable.
• Fibrinogen disorders: Cryoprecipitate or fibrinogen concentrate.

    ⚡ Reflex Prompts — Clinical Decisions in Factor Deficiencies

    📖 Summary: Hereditary Clotting Factor Deficiencies — Nelson Ch 525