Jaundice Flashcards
Indirect (unconjugated) hyperbilirubinemia
Physiological jaundice
Presents first 36-48 hours of life, reaches peak total bilirubin levels 10-15 at 5-7 days of life
Physiological jaundice
If severe or prolonged, occurs within first 24 hours of life, or associated with increased directed (conjugated) component
Less likely to be physiological
Initial evaluation should include both ________ to establish whether high bilirubin levels are direct or indirect
Total and direct bilirubin
Increase feedings, UV phototherapy, exchange transfusion for severe jaundice. Trend serum bilirubin levels
Treatment for physiological jaundice
Has an enzyme that delays hepatic bilirubin conjugation and prolongs jaundice in newborns
Breast milk
Presents after first 3-5 days of life and peaks at 2 weeks. Total bilirubin levels reach 19-20 and may persist for 1-2 months
Breast milk jaundice
Rarely requires phototherapy. Encourage breast feeding because jaundice will usually go away on its own
Breast milk jaundice
Direct bilirubin of > ________ OR __________ of total bilirubin indicates a hepatobiliary or general metabolic disorder
10%
2 mg/dL
Very high levels of unconjugated bilirubin (> _______ ) can cross the blood-brain barrier and deposit in the basal ganglia causing kernicterus (irreversible, potentially fatal encephalopathy)
30 mg/dL
Indirect
Unconjugated bilirubin
Direct
Conjugated bilirubin
Jaundice, lethargy, poor feeding, high-pitched cry, hypertonicity, and seizures
Kernicterus
Order CBC (to assess for anemia), reticulocyte count, and peripheral smear (assess for hemolysis)
Hyperbilirubinemia
________ test can distinguish antibody mediated disease (ABO incompatibility) from non-immune mediated (G6PD deficiency, hereditary spherocytosis)
Coombs
Most common inherited disorder of bilirubin glucoronidation
Gilbert’s syndrome
Caused by defective UGT1A1
Gilbert’s syndrome
Rarely diagnosed before puberty. See in adolescence due to hormonal changes
Gilbert’s syndrome
Repeated episodes of jaundice with stressors (illness, fever, dehydration, fasting)
Gilbert’s syndrome
No treatment available for
Gilberts syndrome
Abnormal functioning of the bilirubin-UGT enzyme
Crigler-Najjar Syndrome
Liver transplant is the only cure for
Crigler-Najjar Syndrome
Increased unconjugated (indirect) bilirubin with normal hepatic enzymes. Persistent hyperbilirubinemia despite treatment with phototherapy and exchange transfusion (plasmapharesis)
Crigler-Najjar Syndrome
Chronic cholestasis due to paucity (lack) of bile ducts
Alagille syndrome
Associated with JAG1 or NOTCH2 mutation
Alagille syndrome
Associated with dysmorphic facies and other anomalies of heart, eyes, and vertebrae
Alagille syndrome
Pruritus (itchiness) due to cholestasis.
Growth failure due to malnutrition.
Increased bilirubin, increased GGT, Increased AST/ALT.
Alagille syndrome
Diagnosed by liver biopsy showing limited number of bile ducts
Alagille syndrome
Treat _________ with ursodiol, rifampin, and bile acid-binding resins
Pruritus
Some patients with this disease (20%) will require a liver transplant
Alagille syndrome
