Gilbert syndrome

Common Name(s)

Gilbert syndrome, Hyperbilirubinemia type 1

Gilbert syndrome is an inherited condition in which the liver does not correctly process bilirubin, a yellow-ish substance produced during the normal breakdown of old red blood cells. Bilirubin travels through the bloodstream to the liver where it is processed and removed from the blood. The symptom of cholemia or hyperbilirubinemia (high bilirubin levels) is jaundice or yellowing of the skin and whites of the eyes. It is generally a mild condition and does not usually require treatment. Times of jaundice are sometimes induced in children and adults during infections and illness, lack of sleep, fasting (stretches of not eating), menstruation cycles, and stress and may be accompanied by mild abdominal pain or nausea. The jaundice during these times goes away on its own after the person recovers. In the newborn period, jaundice can be longer-lasting and more severe. Diagnosis often occurs by accident when blood is drawn for another reason unless a person or newborn has a severe bout of jaundice and the yellow in the skin or eyes is noted. Treatment is only necessary if bilirubin levels are very high.

More males than females have been diagnosed with Gilbert syndrome. This condition is caused by mutations in the UGT1A1 gene. Gilbert syndrome is inherited or passed through families in an autosomal recessive manner. This means that to be affected, an individual must have two copies of the changed gene that causes the condition. An affected person has then inherited one changed gene from each of his or her parents. Each child of two carrier parents has a 25% chance of inheriting both changed genes and therefore the condition. A genetic counselor can provide an understanding of the underlying cause as well as recurrence risks.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gilbert syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Gilbert syndrome" returned 24 free, full-text research articles on human participants. First 3 results:

Perfluorocarbons and Gilbert syndrome (phenotype) in the C8 Health Study Population.
 

Author(s): Hongmin Fan, Alan Ducatman, Jianjun Zhang

Journal: Environ. Res.. 2014 Nov;135():70-5.

 

Gilbert syndrome (GS) is an inherited defect of bilirubin conjugation, most commonly caused by a gene mutation for the enzyme UGT1A. GS is known to affect the metabolism and excretion of drugs and xenobiotics. Perfluorocarbon compounds (PFCs) are bio-persistent environmental contaminants ...

Last Updated: 9 Dec 2014

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Hyperbilirubinemia, augmentation of endothelial function, and decrease in oxidative stress in Gilbert syndrome.
 

Author(s): Tatsuya Maruhashi, Junko Soga, Noritaka Fujimura, Naomi Idei, Shinsuke Mikami, Yumiko Iwamoto, Masato Kajikawa, Takeshi Matsumoto, Yasuki Kihara, Kazuaki Chayama, Kensuke Noma, Ayumu Nakashima, Hirofumi Tomiyama, Bonpei Takase, Akira Yamashina, Yukihito Higashi

Journal: Circulation. 2012 Jul;126(5):598-603.

 

Patients with Gilbert syndrome have mild unconjugated hyperbilirubinemia. It has been shown that bilirubin is an endogenous antioxidant. We evaluated the role of oxidative stress in endothelial function in patients with Gilbert syndrome under normal conditions without cardiovascular risk factors.

Last Updated: 1 Aug 2012

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Reduced circulating oxidized LDL is associated with hypocholesterolemia and enhanced thiol status in Gilbert syndrome.
 

Author(s): Ai-Ching Boon, Clare L Hawkins, Kavita Bisht, Jeff S Coombes, Bhavisha Bakrania, Karl-Heinz Wagner, Andrew C Bulmer

Journal: Free Radic. Biol. Med.. 2012 May;52(10):2120-7.

 

A protective association between bilirubin and atherosclerosis/ischemic heart disease clearly exists in vivo. However, the relationship between bilirubin and in vivo oxidative stress parameters in a clinical population remains poorly described. The aim of this study was to assess ...

Last Updated: 6 Jun 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Gilbert syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.