Inherited hyperbilirubinemia

Last updated: August 30, 2022

Summarytoggle arrow icon

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.

Classificationtoggle arrow icon

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

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

Gilbert syndrometoggle arrow icon

Crigler-Najjar syndrometoggle arrow icon

Crigler-Najjar syndrome type I

Crigler-Najjar syndrome type II (Arias syndrome)

Dubin-Johnson syndrometoggle arrow icon

In Dubin-Johnson syndrome, the liver appears Dark.

Rotor syndrometoggle arrow icon

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

Referencestoggle arrow icon

  1. Manandhar SR, Gurubacharya RL, Baral MR, Manandhar DS. A case report of Gilbert Syndrome.. Kathmandu Univ Med J (KUMJ). ; 1 (3): p.187-9.
  2. Thoguluva Chandrasekar V, John S. Gilbert Syndrome. StatPearls. 2020.
  3. Persico M, Persico E, Bakker CT, et al. Hepatic uptake of organic anions affects the plasma bilirubin level in subjects with Gilbert's syndrome mutations in UGT1A1.. Hepatology. 2001; 33 (3): p.627-32.doi: 10.1053/jhep.2001.22499 . | Open in Read by QxMD
  4. Bosma PJ. Inherited disorders of bilirubin metabolism.. J Hepatol. 2003; 38 (1): p.107-17.doi: 10.1016/s0168-8278(02)00359-8 . | Open in Read by QxMD
  5. Govardhan Bale, Urmila S. Avanthi, N.Rao Padaki, Mithun Sharma, N.Reddy Duvvur, V.Ravi Kanth Vishnubhotla. Incidence and Risk of Gallstone Disease in Gilbert's Syndrome Patients in Indian Population. Journal of Clinical and Experimental Hepatology. 2018; 8 (4): p.362-366.doi: 10.1016/j.jceh.2017.12.006 . | Open in Read by QxMD
  6. Ieiri I, Higuchi S, Sugiyama Y. Genetic polymorphisms of uptake (OATP1B1, 1B3) and efflux (MRP2, BCRP) transporters: implications for inter-individual differences in the pharmacokinetics and pharmacodynamics of statins and other clinically relevant drugs. Expert Opinion on Drug Metabolism & Toxicology . 2009; 5 (7): p.703-729.doi: 10.1517/17425250902976854 . | Open in Read by QxMD
  7. $Rotor Syndrome.

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