What is the management for a child with umbilical bleeding, normal prothrombin time (PT), activated partial thromboplastin time (aPTT), platelet count, and platelet function, but increased clot lysis, and a family history of similar bleeding disorders?

Factor XIII Deficiency: Immediate Management with Fresh Frozen Plasma

This child has Factor XIII deficiency, and you must immediately administer fresh frozen plasma (FFP) at 10-20 mL/kg every 12 hours to stop the umbilical bleeding. 1

Clinical Diagnosis

The clinical presentation is pathognomonic for Factor XIII deficiency:

• Umbilical bleeding with normal PT, aPTT, platelet count, and platelet function is the classic presentation 1, 2, 3
• Increased clot lysis (prolonged clotting time by 5 minutes) indicates the clot dissolves in 5M urea, which is diagnostic 2, 3
• Positive family history with consanguinity strongly supports autosomal recessive inheritance 2, 3
• Umbilical stump bleeding occurs in 22-80% of Factor XIII deficient neonates and is often the first clinical manifestation 2, 3, 4

Immediate Treatment Protocol

Acute Bleeding Management

• Administer FFP 10-20 mL/kg intravenously every 12 hours until bleeding stops 1
• Factor XIII has a long half-life (9-12 days), so FFP replacement rapidly corrects the deficiency 1
• Do NOT give intramuscular vitamin K injection until Factor XIII is corrected, as this can cause large intramuscular hemorrhages 1

Critical Safety Measures

• Avoid all invasive procedures including venipuncture and circumcision until diagnosis is confirmed and Factor XIII levels are corrected 5, 1
• Delay elective procedures until Factor XIII activity is >10% 1
• Collaborate immediately with pediatric hematology if available 5

Diagnostic Confirmation

While treatment should not be delayed, confirm the diagnosis with:

• Clot solubility test in 5M urea - positive result (clot dissolves) is diagnostic 2, 3
• Factor XIII activity assay when available 2, 3
• The euglobin lysis test may show increased fibrinolysis but is less specific 1

Important pitfall: Do not assume vitamin K deficiency based on umbilical bleeding alone - vitamin K deficiency would show prolonged PT, which is absent in this case 1

Long-Term Prophylaxis Strategy

Prophylactic Regimen

After acute bleeding is controlled, initiate prophylaxis with:

• FFP 10-20 mL/kg every 2-4 weeks 1
• Alternatively, Factor XIII concentrate at manufacturer-recommended intervals if available 1
• Monthly cryoprecipitate transfusions are an alternative option 2

Rationale for Prophylaxis

• Intracranial hemorrhage occurs in 25-30% of untreated Factor XIII deficient children 2, 6, 4
• Prophylaxis commenced early in life (within first month) prevents arthropathy and improves quality of life 6
• Two of the ten children in one series developed intracranial hemorrhage, requiring craniotomy 2

Adjunctive Therapy Considerations

Antifibrinolytic Agents

• Tranexamic acid may be considered as adjunctive therapy for mucosal bleeding or procedures 5, 7
• Tranexamic acid inhibits plasminogen activation and stabilizes fibrin clots 7
• Dose: 10 mg/kg IV every 8 hours in children 7
• However, FFP remains the primary treatment - tranexamic acid alone is insufficient 1

Vascular Access Planning

• Central venous access devices may be required for long-term prophylaxis, especially in infants 6
• Two of four children in one series required central line placement for regular prophylaxis 6
• This decision should be made in consultation with pediatric hematology 5

Family Counseling and Screening

• Screen siblings and family members with history of bleeding 2, 3
• Provide genetic counseling regarding autosomal recessive inheritance 5
• Counsel about 80% consanguinity rate in affected families 2
• Inform parents about the need for lifelong prophylaxis to prevent life-threatening hemorrhages 2, 6

Monitoring and Follow-Up

• Regular hematology follow-up is mandatory with monthly prophylactic infusions 2
• Monitor for development of inhibitors (rare but possible) 2
• Assess joint function regularly to ensure prophylaxis is adequate 6
• Before any surgical procedure, ensure Factor XIII levels are >10% activity 1