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Genetic and Rare Diseases Information Center (GARD)

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Gilbert syndrome

*

* Not a rare disease

Other Names for this Disease

  • Cholemia, familial
  • Gilbert's disease
  • Hyperbilirubinemia Arias type
  • Hyperbilirubinemia type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Gilbert syndrome?

What are the signs and symptoms of Gilbert syndrome?

How is Gilbert syndrome inherited?

Is genetic testing available for Gilbert syndrome?

How might Gilbert syndrome be treated?

What is Gilbert syndrome?

Gilbert syndrome is a common, mild liver disorder in which the liver doesn't properly process bilirubin, a substance produced by the breakdown of red blood cells. Gilbert syndrome typically doesn't require treatment or pose serious complications. In fact, Gilbert syndrome is usually not considered a disease because of its benign nature. Many individuals find out they have the disorder by accident, when they have a blood test that shows elevated bilirubin levels. More males than females have been diagnosed with Gilbert syndrome.[1] This condition is caused by mutations in the UGT1A1 gene and is inherited in an autosomal recessive pattern.[2]
Last updated: 5/2/2011

What are the signs and symptoms of Gilbert syndrome?

While many people with Gilbert syndrome never experience any symptoms,  mild jaundice may occur if bilirubin levels get high enough. Other possible symptoms may include fatigue, weakness and abdominal pain.[1][3]  
Last updated: 5/2/2011

How is Gilbert syndrome inherited?

Gilbert syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[2]
Last updated: 5/2/2011

Is genetic testing available for Gilbert syndrome?

GeneTests lists the names of laboratories that are performing genetic testing for Gilbert syndrome. To view the contact information for the clinical laboratories conducting testing, click herePlease note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:  

Last updated: 5/2/2011

How might Gilbert syndrome be treated?

Gilbert syndrome generally doesn't require treatment. The bilirubin levels in the blood may fluctuate over time, causing episodes of jaundice. However, the jaundice is usually mild and goes away on its own. In some cases, doctors may prescribe phenobarbital to lower extremely elevated bilirubin levels and reduce signs of jaundice. Phenobarbital administration usually alleviates signs of jaundice fairly quickly.[1][2]
Last updated: 6/8/2011

References
  1. Gilbert Syndrome. MayoClinic.com. April 17, 2919; http://www.mayoclinic.com/print/gilberts-syndrome/DS00743/DSECTION=all&METHOD=print. Accessed 5/2/2011.
  2. Gilbert Syndrome. Online Mendelian Inheritance of Man (OMIM). 2009; http://www.ncbi.nlm.nih.gov/omim/143500. Accessed 5/2/2011.
  3. Dugdale DC, Longstreth GF. Gilbert's disease. MedlinePlus. 2009; http://www.nlm.nih.gov/medlineplus/ency/article/000301.htm.


Other Names for this Disease
  • Cholemia, familial
  • Gilbert's disease
  • Hyperbilirubinemia Arias type
  • Hyperbilirubinemia type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.