Gilbert's syndrome
| Gilbert's syndrome | |
|---|---|
| Other names | Gilbert syndrome, Meulengracht syndrome, Gilbert-Lereboullet syndrome, hyperbilirubinemia Arias type, hyperbilirubinemia type 1, familial cholemia, familial nonhemolytic jaundice[1][2] |
| Bilirubin | |
| Pronunciation |
|
| Specialty | Gastroenterology |
| Symptoms | Usually none, still, abdominal pain, nausea, tired and weak feeling, slight jaundice may present[1] |
| Complications | Usually none[1] |
| Causes | Genetic[1] |
| Differential diagnosis | Crigler–Najjar syndrome, Rotor syndrome, Dubin–Johnson syndrome[2] |
| Treatment | None typically needed[1] |
| Frequency | ~5%[3] |
Gilbert syndrome (GS) is a syndrome in which the liver of affected individuals processes bilirubin more slowly than the majority resulting in higher levels in the blood.[1] Many people never have symptoms.[1] Occasionally jaundice (a yellowing of the skin or whites of the eyes) may occur.[1]
Gilbert syndrome is due to a genetic variant in the UGT1A1 gene which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme.[1][3] It is typically inherited in an autosomal recessive pattern and occasionally in an autosomal dominant pattern depending on the type of variant.[3] Episodes of jaundice may be triggered by stress such as exercise, menstruation, or not eating.[3] Diagnosis is based on elevated levels of unconjugated bilirubin in the blood without signs of liver problems or red blood cell breakdown.[2][3]
Typically no treatment is needed.[1] Phenobarbital aids in the conjugation of bilirubin and can be prescribed if jaundice becomes significant.[1] Gilbert syndrome is associated with decreased cardiovascular health risks but increased risks of some cancers and gallstones.[4][5] Gilbert syndrome affects about 5% of people in the United States.[3] Males are more often diagnosed than females.[1] It is often not noticed until late childhood to early adulthood.[2] The condition was first described in 1901 by Augustin Nicolas Gilbert.[6][2][7]
- ^ a b c d e f g h i j k l "Gilbert syndrome". GARD. 2016. Archived from the original on 4 August 2017. Retrieved 2 July 2017.
- ^ a b c d e "Gilbert Syndrome". NORD (National Organization for Rare Disorders). 2015. Archived from the original on 20 February 2017. Retrieved 2 July 2017.
- ^ a b c d e f "Gilbert syndrome". Genetics Home Reference. 27 June 2017. Archived from the original on 27 June 2017. Retrieved 2 July 2017.
- ^ Cite error: The named reference
:0was invoked but never defined (see the help page). - ^ Cite error: The named reference
:2was invoked but never defined (see the help page). - ^ Cite error: The named reference
Gilbert & Lereboullet, Semaine Médicale, 1901was invoked but never defined (see the help page). - ^ "Whonamedit – dictionary of medical eponyms". www.whonamedit.com. Archived from the original on 18 September 2016. Retrieved 2 July 2017.