Inherited hyperbilirubinemia

Last updated: February 16, 2021

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Hyperbilirubinemia is characterized by serum bilirubin levels of ≥ 1.1 mg/dL. In contrast to acute or chronic cholestatic liver disorders, which may also lead to increased serum bilirubin levels, syndromes associated with hyperbilirubinemia lead to isolated hyperbilirubinemia and hence do not affect liver enzymes. These syndromes cause a rise in either unconjugated or conjugated bilirubin. The clinical manifestation of hyperbilirubinemia is relatively mild; transient jaundice is the primary symptom. With the exception of Crigler-Najjar syndrome type I, inherited hyperbilirubinemia syndromes do not require medical management. Patients with hyperbilirubinemia generally have a good prognosis.

Individuals with Crigler-Najjar or Gilbert syndrome cannot ConjuGate bilirubin.

Individuals with Rotor syndrome or Dubin-Johnson syndrome cannot get RiD of DiRect bilirubin.

Crigler-Najjar syndrome type I

Crigler-Najjar syndrome type II (Arias syndrome)

In Dubin-Johnson syndrome, the liver appears Dark.

In Rotor syndrome, the liver appears Regular (no dark pigmentation).

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  7. Rotor Syndrome.

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