What is the management and treatment for congenital vitamin K deficiency?

Management of Congenital Vitamin K Deficiency

Immediate vitamin K administration is the cornerstone of treatment for congenital vitamin K deficiency, with intramuscular injection being the preferred route due to its superior reliability and efficacy compared to oral administration.

Diagnosis and Clinical Presentation

Congenital vitamin K deficiency is a rare but serious bleeding disorder that can present with:

• Intracranial hemorrhage (potentially fatal)
• Bleeding from umbilical stump
• Gastrointestinal bleeding
• Mucosal bleeding
• Ecchymoses and petechiae
• Prolonged prothrombin time (PT) and partial thromboplastin time (PTT)
• Elevated PIVKA-II (Protein Induced by Vitamin K Absence/Antagonist-II) levels

Laboratory diagnosis is confirmed by:

• Serum vitamin K1 concentrations <0.15 mg/L indicating deficiency 1
• Prolonged coagulation tests that correct with vitamin K administration
• Decreased activity of vitamin K-dependent factors (II, VII, IX, X)
• Elevated PIVKA-II levels, a sensitive biomarker for subclinical vitamin K deficiency 1

Treatment Protocol

Acute Management of Bleeding

1. Immediate vitamin K administration:

   • For active bleeding: Vitamin K1 (phytonadione) 30 μg/kg IV 2
   • Monitor INR every 6 hours until stabilized 2

2. Blood product support for significant bleeding:

   • Fresh frozen plasma (10-15 mL/kg)
   • Prothrombin complex concentrates
   • Recombinant factor VIIa for life-threatening bleeding 2

Maintenance Therapy

After initial stabilization, maintenance therapy should be instituted:

• For infants:

  • Intramuscular route: 1 mg vitamin K1 at birth 3
  • If oral route is chosen (less reliable): 3 × 2 mg vitamin K1 orally at birth, at 4-6 days, and at 4-6 weeks; OR 2 mg at birth followed by weekly doses of 1 mg for 3 months 3

• For older children with ongoing deficiency:

  • Oral vitamin K1 supplementation at 1-2 mg daily 1
  • Higher doses may be required in malabsorption syndromes

Special Considerations

Cholestasis and Malabsorption

In patients with conditions affecting vitamin K absorption (cholestasis, cystic fibrosis, celiac disease, short bowel syndrome):

• Higher doses of vitamin K may be required
• Intramuscular or intravenous routes preferred over oral administration 4
• Regular monitoring of coagulation parameters is essential

Maternal Use of Vitamin K Antagonists

For infants born to mothers on warfarin or other vitamin K antagonists:

• Immediate vitamin K administration at birth is critical
• Close monitoring for delayed bleeding complications
• Consider extended prophylaxis beyond the neonatal period 1

Monitoring and Follow-up

• Check INR within 24-48 hours after initiating treatment
• More frequent monitoring in pediatric patients due to variable dose requirements
• Monitor for intercurrent illnesses that may affect vitamin K status 1
• Check PT-INR at the time of or within a few days of any illness 1

Prevention Strategies

• All newborns should receive vitamin K prophylaxis at birth 3
• Document date, dose, and mode of administration
• Parental education about the importance of vitamin K prophylaxis
• For infants at high risk (exclusively breastfed, cholestatic disorders), consider extended prophylaxis 5

Potential Complications

• Intracranial hemorrhage is the most serious complication of untreated vitamin K deficiency
• CNS abnormalities may result from bleeding
• Long-term neurological sequelae may occur if treatment is delayed 6

The management of congenital vitamin K deficiency requires prompt recognition and treatment to prevent potentially devastating bleeding complications. Intramuscular administration of vitamin K remains the gold standard for reliability and efficacy, particularly in cases where malabsorption may be present.