Gilbert's syndrome

Not to be confused with Guillain–Barré syndrome.
Gilbert's syndrome
Other namesGilbert syndrome, Meulengracht syndrome, Gilbert-Lereboullet syndrome, hyperbilirubinemia Arias type, hyperbilirubinemia type 1, familial cholemia, familial nonhemolytic jaundice[1][2]
Bilirubin
Pronunciation
SpecialtyGastroenterology
SymptomsUsually none, still, abdominal pain, nausea, tired and weak feeling, slight jaundice may present[1]
ComplicationsUsually none[1]
CausesGenetic[1]
Differential diagnosisCrigler–Najjar syndrome, Rotor syndrome, Dubin–Johnson syndrome[2]
TreatmentNone 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.[1] Many people never have symptoms.[1] Occasionally jaundice (a slight yellowish color 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 higher levels of unconjugated bilirubin in the blood without either signs of other liver problems or red blood cell breakdown.[2][3]

Typically no treatment is needed.[1] Gilbert syndrome is associated with decreased cardiovascular health risks.[4] If jaundice is significant phenobarbital may be used, which aids in the conjugation of bilirubin.[1] 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.[5][2][6]

  1. ^ 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.
  2. ^ 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.
  3. ^ 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.
  4. ^ Cite error: The named reference :0 was invoked but never defined (see the help page).
  5. ^ Cite error: The named reference Gilbert & Lereboullet, Semaine Médicale, 1901 was invoked but never defined (see the help page).
  6. ^ "Whonamedit – dictionary of medical eponyms". www.whonamedit.com. Archived from the original on 18 September 2016. Retrieved 2 July 2017.