What are the symptoms and treatment options for hyperbilirubinemia?

Symptoms and Treatment of Hyperbilirubinemia

Hyperbilirubinemia presents with jaundice (yellowing of skin and eyes) and can progress to severe neurological complications if untreated, requiring prompt identification and management with phototherapy or exchange transfusion based on bilirubin levels and risk factors. 1, 2

Clinical Presentation

Common Symptoms

• Yellowing of skin and sclera (jaundice) - typically progressing from head to toe
• Changes in urine color (dark urine)
• Changes in stool color (pale stools with direct hyperbilirubinemia)
• Pruritus (itching) in cases of prolonged hyperbilirubinemia 2

Severe Manifestations (Acute Bilirubin Encephalopathy)

• Lethargy
• Poor feeding
• High-pitched cry
• Hypertonia or hypotonia
• Retrocollis and opisthotonus (backward arching of head, neck, and spine)
• Setting-sun sign
• Seizures 1

Diagnosis

1. Distinguish between direct and indirect hyperbilirubinemia:

   • Direct (conjugated) bilirubin >1.0 mg/dL when total bilirubin is ≤5 mg/dL is abnormal 2
   • Interpret bilirubin levels according to infant's age in hours 2

2. Risk assessment factors:

   • Family history of neonatal jaundice
   • Gestational age (preterm infants at higher risk)
   • Exclusive breastfeeding
   • Presence of hemolysis 1

Treatment Options

For Neonatal Hyperbilirubinemia

1. Primary Prevention:

   • Support successful breastfeeding (8-12 times per day for first several days)
   • Avoid routine supplementation with water in nondehydrated breastfed infants 1, 2

2. Phototherapy:

   • Initiate when total serum bilirubin (TSB) reaches thresholds based on:
     • Age of infant in hours
     • Gestational age
     • Presence of risk factors 2
   • Use special blue fluorescent tubes or LED light sources (425-475 nm wavelength)
   • Maintain irradiance level of >30 mW/cm² per nm 2
   • Continue monitoring TSB until levels are clearly declining 2

3. Intensive Treatment for Severe Cases:

   • Consider IVIG (0.5-1 g/kg over 2 hours) if TSB is rising despite intensive phototherapy
   • Prepare for exchange transfusion if TSB ≥25 mg/dL (428 μmol/L) or reaches exchange level per AAP guidelines 2

For Other Types of Hyperbilirubinemia

1. Direct (Conjugated) Hyperbilirubinemia:

   • Identify and treat underlying cause (biliary obstruction, hepatitis, etc.)
   • For biliary obstruction: Consider MR cholangiography or endoscopic retrograde cholangiography
   • May require endoscopic or surgical intervention 2

2. Cardiac-Related Hyperbilirubinemia:

   • Treat underlying cardiac condition causing passive congestion 2

Follow-up Care

• Schedule follow-up at 2-4 weeks to check hemoglobin levels, especially with rare antibodies
• Monitor for late-onset anemia 2
• Regular monitoring of bilirubin levels and liver function tests until condition resolves 2

Important Considerations

• Jaundice occurs in approximately 60% of term and 80% of preterm infants 3
• While most cases are benign, severe hyperbilirubinemia can lead to kernicterus, a permanent neurologic condition 4
• The incidence of chronic bilirubin encephalopathy is estimated at 0.9 per 100,000 live births 1
• Early detection through bilirubin screening and prompt treatment are critical to preventing neurotoxicity 4

Common Pitfalls to Avoid

1. Failing to identify non-physiologic causes - Always consider hemolysis, biliary obstruction, and cardiac causes
2. Delaying treatment - Severe hyperbilirubinemia requires urgent intervention to prevent neurological damage
3. Inadequate monitoring - Continue measuring bilirubin levels until clearly declining
4. Overlooking conjugated hyperbilirubinemia - In prolonged jaundice, measure conjugated bilirubin to rule out conditions like biliary atresia 5
5. Interrupting breastfeeding - Breastfeeding can and should be continued during phototherapy 2