A neonatal presentation of factor V deficiency: a case report

Area of Science:

• Hematology
• Pediatrics
• Genetics

Background:

• Factor V deficiency is a rare, autosomal recessive coagulation disorder.
• Early recognition of symptoms and appropriate management are crucial to prevent severe bleeding complications, mortality, and neurodevelopmental deficits.

Observation:

• A 6-day-old infant of consanguineous parents presented with unexplained bleeding from the left nipple.
• Diagnostic tests revealed significantly prolonged prothrombin time and partial thromboplastin time, with undetectable Factor V activity (<0.01 IU/ml).
• The infant later developed an intracranial hemorrhage, necessitating aggressive treatment.

Findings:

• The patient was diagnosed with severe homozygous factor V deficiency.
• Treatment with fresh frozen plasma (20 ml/kg, four times weekly) effectively prevented further bleeding episodes up to 21 months of age.
• The child maintained normal neurodevelopmental outcomes despite the severe bleeding events.

Implications:

• Unusual bleeding in newborns, especially from consanguineous families, warrants consideration of rare, severe homozygous bleeding disorders.
• Nipple bleeding can be an initial sign of congenital bleeding disorders.
• Long-term fresh frozen plasma administration is a viable alternative for managing factor V deficiency when factor concentrates are unavailable, preventing critical hemorrhages.