Gilbert Syndrome

Gilbert Syndrome (GS) is an inherited medical condition of liver in which the liver is unable to process the bilirubin present in the liver resulting in the skin getting jaundiced. It is usually a benign disease. In this article, we will discuss about the various causes, symptoms, and treatment of Gilbert Syndrome.

Gilbert Syndrome (GS)

How Is Gilbert Syndrome (GS) Defined?

  • Gilbert Syndrome (GS) is benign inherited disease.1
  • Gilbert Syndrome (GS) affects the processing of bilirubin by the liver causing the skin to have a yellowish tinge.
  • Disease is often asymptomatic and diagnosed after several years during routine blood examination. Disease is often diagnosed during investigation or treatment of cancer or chronic disease.2
  • Blood examination indicates increased bilirubin levels in blood.
  • Disease causes minimum effects on liver and is undisruptive condition.

How Is Gilbert Syndrome (GS) Due To Genetic Disorder Caused?

Gilbert Syndrome (GS) Is A Genetic Disorder-

  • Gilbert Syndrome (GS) is caused due to mutation of gene, which controls the bilirubin binding enzymes.
  • Gene abnormality is observed with gene promoter UGT1A.3 UGT1A is responsible for metabolism of bilirubin. The location of this gene is chromosome II.
  • An affected individual will have two copies of this gene one inherited from each parent.1

Symptoms Of Gilbert Syndrome (GS)

Symptoms and signs are non-specific and specific clinical disorders. Specific symptoms are related to liver disorder.

Non-Specific Clinical Manifestation Of Gilbert Syndrome (GS)-

  • Weakness
  • Fatigue
  • Nausea and vomiting
  • Loss of appetite
  • Difficulties to perform daily activities

Specific Clinical Manifestation of Gilbert Syndrome (GS)-

  • Jaundice-4
  • Mild yellowish discoloration of conjunctiva and skin.
  • Diagnosed during routine clinical examination.
  • Jaundice becomes prominent after exertion, stress and fasting.
  • Infection follows deep jaundice of skin and sclera.
  • Pain- Mild to moderate pain in right upper abdomen
  • Itching- Hyperbilirubinemia causes itching.

Diagnosis of Gilbert Syndrome (GS)

Characteristic Of Gilbert Syndrome (GS) Is As Follows-

  • Increased serum bilirubin.4
  • All other liver function test are normal
  • Mild to moderate jaundice.

Routine Blood Examination

  • Serum Bilirubin- Elevated level of unconjugated bilirubin in the bloodstream
  • All other liver function test- Normal
  • Level of Fasting Total Bilirubin- Substantial increase observed.
  • Level of bilirubin after treatment with phenobarbital- level is decreased.

Genetic Testing-

  • Diagnostic test, not widely available. Tested only at special test centers.

Symptoms Exaggeration after Medications-

  • Exaggerated symptoms and sign observed after intake of medications like acetaminophen and the chemotherapy drug, irinotecan.5

Treatment For Gilbert Syndrome (GS)

Gilbert Syndrome (GS) is a benign condition and is pretty harmless hence no treatment is required. Affected individuals usually lead a normal and healthy life and Gilbert Syndrome does not affect life expectancy in any way. Mild presence of jaundice may be there intermittently but it does not pose a threat in any way.

References:

1. Gilbert syndrome redefined: a complex genetic haplotype influences the regulation of glucuronidation.

Ehmer U1, Kalthoff S, Fakundiny B, Pabst B, Freiberg N, Naumann R, Manns MP, Strassburg CP.

Hepatology. 2012 Jun;55(6):1912-21.

2. Gilbert's syndrome disclosed during the treatment of hematological malignancies.

Ruiz-Argüelles GJ1, Ruiz-Delgado GJ, David Gómez-Rangel J, Gómez-Almaguer D.

Hematology. 2005 Feb;10(1):59-60.

3. Gilbert syndrome: the UGT1A1*28 promoter polymorphism as a biomarker of multifactorial diseases and drug metabolism.

Gil J1, Sąsiadek MM.

Biomark Med. 2012 Apr;6(2):223-30. doi: 10.2217/BMM.12.4.

4. Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia.

Saki F1, Hemmati F, Haghighat M.

Ann Saudi Med. 2011 Mar-Apr;31(2):140-4. doi: 10.4103/0256-4947.77498.

5. Genetics of drug-induced hepatotoxicity toxicity in Gilbert's syndrome.

Raza A1, Vierling J, Hussain KB.

Am J Gastroenterol. 2013 Dec;108(12):1936-7. doi: 10.1038/ajg.2013.293.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: June 1, 2015

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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