Hyperbilirubinemia Differential Diagnosis
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 initial inability to process all the bilirubin being produced. It typically presents in the first week of life and resolves spontaneously.
Other Likely Diagnoses
- Breast Milk Jaundice: A common cause of indirect hyperbilirubinemia in breastfed infants, thought to be due to substances in breast milk that increase the reabsorption of bilirubin from the intestines or decrease its conjugation in the liver.
- Hemolytic Disease of the Newborn (HDN): Caused by maternal antibodies against fetal red blood cells, leading to their destruction and increased bilirubin production. This condition can be due to Rh or ABO incompatibility.
- Infections: Certain infections, especially in the newborn period, can cause hyperbilirubinemia either by increasing red blood cell breakdown or affecting liver function.
Do Not Miss Diagnoses
- Biliary Atresia: A condition where the bile ducts are blocked or absent, leading to direct hyperbilirubinemia. Early diagnosis and surgical intervention are crucial to prevent liver cirrhosis and improve outcomes.
- Galactosemia: A genetic disorder that affects the body's ability to metabolize galactose, a sugar found in milk, leading to liver dysfunction and hyperbilirubinemia. Prompt diagnosis through newborn screening and dietary changes can significantly improve prognosis.
- Congenital Thyroidism: Hypothyroidism can cause an increase in bilirubin levels. Early detection and treatment are essential for preventing long-term neurological and developmental issues.
Rare Diagnoses
- Crigler-Najjar Syndrome: A rare genetic disorder affecting the enzyme responsible for converting bilirubin into a water-soluble form that can be excreted, leading to very high levels of unconjugated bilirubin.
- Dubin-Johnson Syndrome: A rare genetic disorder characterized by an inability to secrete conjugated bilirubin into the bile, resulting in a form of chronic jaundice.
- Gilbert Syndrome: A mild genetic disorder that affects the liver's ability to process bilirubin, typically presenting with intermittent jaundice during periods of stress or illness.