Gilbert's syndrome: Difference between revisions

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{{Distinguish|Guillain–Barré syndrome}}
{{SI}}  
{{Infobox medical condition (new)
{{Infobox medical condition
| name            = Gilbert's syndrome
| name            = Gilbert's syndrome
| synonyms        = Meulengracht syndrome, Gilbert-Lereboullet syndrome, <br>hyperbilirubinemia Arias type, hyperbilirubinemia type 1,<br> familial cholemia, familial nonhemolytic jaundice
| image          = [[File:Bilirubin.svg|250px]]
| image          = Bilirubin.svg
| caption        = Chemical structure of [[bilirubin]]
| caption        = [[Bilirubin]]
| synonyms        = [[Constitutional hepatic dysfunction]], [[familial nonhemolytic jaundice]], [[hyperbilirubinemia type 1]]
| pronounce      = {{IPAc-en|ʒ|iː|l|ˈ|b|ɛər|z}} {{respell|zheel|BAIRZ}}
| pronounce      =  
| speciality      = [[Gastroenterology]]
| specialty      = [[Gastroenterology]], [[Hepatology]]
| symptoms        = None, slight [[jaundice]]
| symptoms        = Mild [[jaundice]], [[fatigue]], [[abdominal pain]]
| complications  = Usually none
| onset          = Typically in [[adolescence]] or [[young adulthood]]
| onset          =
| duration        = [[Chronic]]
| duration        =
| causes          = [[Genetic mutation]] in the [[UGT1A1]] gene
| types          =
| risks          =  
| causes          = [[Genetic condition|Genetic]]
| diagnosis      = [[Blood test]] showing elevated [[unconjugated bilirubin]]
| risks          =
| differential    = [[Hemolytic anemia]], [[Crigler-Najjar syndrome]], [[Dubin-Johnson syndrome]], [[Rotor syndrome]]
| diagnosis      =
| treatment      = Usually none required
| differential    = [[Crigler–Najjar syndrome]], [[Rotor syndrome]], [[Dubin–Johnson syndrome]]
| medication      =  
| prevention      =
| frequency      = 3-12% of the population
| treatment      = None typically needed
| deaths          = None directly attributable
| medication      =
| prognosis      =
| frequency      = ~5%
| deaths          =
}}
}}
'''Gilbert's syndrome''' (GS) is a mild liver disorder characterized by the liver's inability to effectively process bilirubin, a yellowish compound produced during the normal breakdown of red blood cells<ref>{{cite web |title=Gilbert's syndrome |url=https://www.mayoclinic.org/diseases-conditions/gilberts-syndrome/symptoms-causes/syc-20372811 |publisher=Mayo Clinic |accessdate=2023-05-18}}</ref>.
'''Gilbert's syndrome''' is a common, mild liver disorder in which the liver does not properly process [[bilirubin]]. Bilirubin is a substance produced by the breakdown of [[red blood cells]]. Gilbert's syndrome is characterized by an increase in unconjugated bilirubin in the bloodstream, leading to mild [[jaundice]].
 
== Pathophysiology ==
==Clinical Presentation==
Gilbert's syndrome is caused by a genetic mutation in the [[UGT1A1]] gene, which encodes the enzyme [[uridine diphosphate glucuronosyltransferase]] (UGT). This enzyme is responsible for the conjugation of bilirubin, making it water-soluble and allowing it to be excreted in [[bile]]. In individuals with Gilbert's syndrome, the activity of UGT is reduced, leading to an accumulation of unconjugated bilirubin in the blood.
 
== Clinical Presentation ==
Many individuals with GS remain asymptomatic, but occasional symptoms can arise. These may include mild jaundice (yellowing of the skin and whites of the eyes), fatigue, weakness, and abdominal pain.
Most individuals with Gilbert's syndrome are asymptomatic and may not be aware they have the condition. When symptoms do occur, they are usually mild and may include:
 
* Mild [[jaundice]], particularly during periods of fasting, stress, or illness
==Etiology and Genetics==
* Fatigue
 
* Abdominal discomfort
Gilbert's syndrome arises from a mutation in the UGT1A1 gene, which leads to decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase (UGT) enzyme. This enzyme is responsible for converting bilirubin into a form that can be excreted by the body<ref>{{cite journal |title=Molecular basis of Gilbert's syndrome |url=https://jmg.bmj.com/content/35/9/732.long |journal=Journal of Medical Genetics |year=1998 |volume=35 |issue=9 |pages=732–736 |author=Beutler, E., Gelbart, T., Demina, A.}}</ref>. The inheritance pattern is typically autosomal recessive, but occasional autosomal dominant patterns have been reported.
== Diagnosis ==
 
Gilbert's syndrome is often diagnosed incidentally during routine blood tests that show elevated levels of unconjugated bilirubin. Further tests may include:
==Triggers==
* Liver function tests
 
* Genetic testing for mutations in the UGT1A1 gene
Episodes of jaundice in Gilbert's syndrome may be triggered by stressors such as strenuous exercise, menstruation, fasting, or illness.
== Management ==
 
Gilbert's syndrome is a benign condition that typically does not require treatment. Management focuses on lifestyle modifications to avoid factors that may exacerbate jaundice, such as:
==Diagnosis==
* Maintaining a regular eating schedule
 
* Managing stress
The diagnosis of Gilbert's syndrome is typically based on higher levels of unconjugated bilirubin in the blood without signs of other liver problems or red blood cell breakdown.
* Avoiding fasting
 
== Related Conditions ==
==Management==
Gilbert's syndrome should be differentiated from other causes of hyperbilirubinemia, such as:
 
* [[Crigler-Najjar syndrome]]
Treatment is usually unnecessary as the condition is benign. However, in cases where jaundice is pronounced, phenobarbital, a medication that stimulates the UGT enzyme, may be used<ref>{{cite web |title=Gilbert's syndrome |url=https://www.uptodate.com/contents/gilberts-syndrome |publisher=UpToDate |accessdate=2023-05-18}}</ref>.
* [[Dubin-Johnson syndrome]]
 
* [[Rotor syndrome]]
==Epidemiology==
== See also ==
 
* [[Liver function tests]]
Gilbert's syndrome affects about 5% of people in the United States, with a higher prevalence among males. It is often not diagnosed until late childhood or early adulthood. The syndrome was first described in 1901 by the French gastroenterologist Augustin Nicolas Gilbert.
* [[Jaundice]]
 
==See Also==
 
* [[Liver disease]]
* [[Bilirubin]]
* [[Bilirubin]]
* [[Jaundice]]
==References==
<references />
[[Category:Hepatology]]
[[Category:Hepatology]]
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Medical conditions]]
[[Category:Inborn errors of metabolism]]
{{stub}}
{{Heme metabolism disorders}}
{{DEFAULTSORT:Gilbert's Syndrome}}
[[Category:Accessory digestive gland disorders]]
[[Category:Hepatology]]
[[Category:Heme metabolism disorders]]
[[Category:Genetic syndromes]]
[[Category:Pediatrics]]
[[Category:RTT]]

Latest revision as of 02:01, 7 April 2025

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Gilbert's syndrome
Synonyms Constitutional hepatic dysfunction, familial nonhemolytic jaundice, hyperbilirubinemia type 1
Pronounce
Specialty Gastroenterology, Hepatology
Symptoms Mild jaundice, fatigue, abdominal pain
Complications N/A
Onset Typically in adolescence or young adulthood
Duration Chronic
Types N/A
Causes Genetic mutation in the UGT1A1 gene
Risks
Diagnosis Blood test showing elevated unconjugated bilirubin
Differential diagnosis Hemolytic anemia, Crigler-Najjar syndrome, Dubin-Johnson syndrome, Rotor syndrome
Prevention N/A
Treatment Usually none required
Medication
Prognosis N/A
Frequency 3-12% of the population
Deaths None directly attributable


Gilbert's syndrome is a common, mild liver disorder in which the liver does not properly process bilirubin. Bilirubin is a substance produced by the breakdown of red blood cells. Gilbert's syndrome is characterized by an increase in unconjugated bilirubin in the bloodstream, leading to mild jaundice.

Pathophysiology[edit]

Gilbert's syndrome is caused by a genetic mutation in the UGT1A1 gene, which encodes the enzyme uridine diphosphate glucuronosyltransferase (UGT). This enzyme is responsible for the conjugation of bilirubin, making it water-soluble and allowing it to be excreted in bile. In individuals with Gilbert's syndrome, the activity of UGT is reduced, leading to an accumulation of unconjugated bilirubin in the blood.

Clinical Presentation[edit]

Most individuals with Gilbert's syndrome are asymptomatic and may not be aware they have the condition. When symptoms do occur, they are usually mild and may include:

  • Mild jaundice, particularly during periods of fasting, stress, or illness
  • Fatigue
  • Abdominal discomfort

Diagnosis[edit]

Gilbert's syndrome is often diagnosed incidentally during routine blood tests that show elevated levels of unconjugated bilirubin. Further tests may include:

  • Liver function tests
  • Genetic testing for mutations in the UGT1A1 gene

Management[edit]

Gilbert's syndrome is a benign condition that typically does not require treatment. Management focuses on lifestyle modifications to avoid factors that may exacerbate jaundice, such as:

  • Maintaining a regular eating schedule
  • Managing stress
  • Avoiding fasting

Related Conditions[edit]

Gilbert's syndrome should be differentiated from other causes of hyperbilirubinemia, such as:

See also[edit]

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