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What

Gilbert syndrome is an inherited disorder in which the liver cannot properly remove bilirubin from the body. bilirubin is a pigment that is produced when old red blood cells die (a normal process). The liver normally helps clear bilirubin from the body by taking it out of the blood and transporting it into a substance called bile, which is removed through the urine and feces. In Gilbert syndrome, bilirubin is inefficiently removed from the blood and thus accumulates in the body. This excess bilirubin may make the skin appear yellowish in color.

Who

Gilbert syndrome is most common among males and Caucasians (affecting up to 10% of the caucasian population), but it can also be seen in females and people of any racial backgrounds.

Signs and Symptoms

The majority of people with Gilbert syndrome will not experience any symptoms. When symptoms do arise, they are usually mild but can worsen during times of stress, infection, fasting, or physical exertion. A physical sign is mild jaundice (yellow discoloration of the skin and whites of the eyes) and a feeling of fatigue.

Possible Causes

Gilbert syndrome is a genetic disorder involving decreased activity of a certain protein (bilirubin UDP-glucuronosyl-transferase). In a person without Gilbert syndrome, the liver removes bilirubin from the body by taking it out of the blood and attaching it to a substance that makes it easy for the bilirubin to leave the body through the urine and feces in the form of bile. The protein bilirubin UDP-glucuronosyl-transferase helps the processing of bilirubin to bile. In a person with Gilbert syndrome, this protein is deficient, so the bilirubin is not able to leave the body as easily and thus stays in the blood. Its color may give the skin a yellow tint, a condition called jaundice.

Diagnosis

Gilbert syndrome is usually identified through a blood test for bilirubin levels. Your doctor may check other blood tests to make sure there is no other reason for the jaundice. Gilbert syndrome may be confirmed by genetic testing for the protein bilirubin UDP-glucuronosyl-transferase.

Treatment

No treatment is required. Treatment of any underlying infections or halting exertion can help symptoms disappear.

Prognosis

Gilbert syndrome is generally a benign (harmless) condition. People with Gilbert’s live normal lifespans.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Action on Gilbert Syndrome Site
A website with information about the disease, support opportunities for those affected by the condition and links to others sites.

Canadian Liver Foundation
A great website with lots of information as well as links to other helpful sites.

Medic8 Family Health Guide
Well written review and patient guide by a physician.

Google Search for Gilbert Syndrome

References and Sources

Harrison’s Online: Chapter 294: bilirubin Metabolism and the Hyperbilirubinemias Hereditary Defects in bilirubin Conjugation Table 294-1: Principal Differential Characteristics of Gilbert's and Crigler-Najjar Syndromes harrisons.accessmedicine.com/server- java/Arknoid/amed/harrisons/co_chapters/ch294/ch294_table01.html MEDLINEplus Medical Encyclopedia: Gilbert’s syndrome www.nlm.nih.gov/medlineplus/ency/article/000301.htm U.S. National Library of Medicine/National Institutes of Health Last updated: 8/2/05 WebMD Health Guide A-Z Gilbert Syndrome http://www.webmd.com/hw/raising_a_family/nord317.asp Last updated: September 18, 2001 Children’s Liver Alliance Gilbert’s Syndrome Fact Sheet www.liverkids.org.au/fgilberts_syndrome.htm Chowdhury N.R., Wang X., Chowdhury J.R. Gilbert's syndrome and unconjugated hyperbilirubinemia due to bilirubin overproduction. UpToDate Version 14.2, 2006 (on-line information service). Available at: http://www.uptodate.com/index.asp