What is the differential diagnosis for hyperbilirubinemia (elevated bilirubin levels)?

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Differential Diagnosis for Hyperbilirubinemia

Single Most Likely Diagnosis

  • Physiologic jaundice: This is the most common cause of hyperbilirubinemia in newborns, occurring due to the breakdown of red blood cells and the liver's immaturity to process bilirubin. It typically presents within the first few days of life and resolves spontaneously.

Other Likely Diagnoses

  • Breast milk jaundice: A common cause of hyperbilirubinemia in breastfed infants, resulting from substances in breast milk that increase bilirubin reabsorption.
  • Hemolytic disease of the newborn: Caused by maternal antibodies against the baby's red blood cells, leading to their destruction and increased bilirubin production.
  • Infections: Such as urinary tract infections or sepsis, which can cause hyperbilirubinemia due to inflammation and liver dysfunction.
  • Gilbert syndrome: A benign genetic disorder that affects the liver's ability to process bilirubin, leading to intermittent episodes of hyperbilirubinemia.

Do Not Miss Diagnoses

  • Biliary atresia: A rare but serious condition where the bile ducts are blocked, leading to severe liver damage and requiring prompt surgical intervention.
  • Choledochal cysts: Congenital anomalies of the bile ducts that can cause obstructive jaundice and require surgical correction.
  • Neonatal hepatitis: Inflammation of the liver in newborns, which can be caused by infections, genetic disorders, or other factors, and may lead to severe liver damage if left untreated.
  • Galactosemia: A genetic disorder that affects the body's ability to metabolize galactose, leading to liver dysfunction and hyperbilirubinemia.

Rare Diagnoses

  • Crigler-Najjar syndrome: A rare genetic disorder that affects the liver's ability to process bilirubin, leading to severe hyperbilirubinemia.
  • Dubin-Johnson syndrome: A rare genetic disorder that affects the liver's ability to transport bilirubin, leading to chronic hyperbilirubinemia.
  • Rotor syndrome: A rare genetic disorder similar to Dubin-Johnson syndrome, but with a more benign course.
  • Zellweger spectrum disorders: A group of rare genetic disorders that affect the liver and other organs, leading to hyperbilirubinemia and other systemic symptoms.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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