Gilbert's syndrome: Difference between revisions

Revision as of 10:59, 15 February 2025

Gilbert's Syndrome

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

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

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

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

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

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

Related Pages

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-{{Distinguish|Guillain–Barré syndrome}}
+== Gilbert's Syndrome ==
-{{Infobox medical condition (new)
-| name            = Gilbert's syndrome
-| synonyms        = Meulengracht syndrome, Gilbert-Lereboullet syndrome, <br>hyperbilirubinemia Arias type, hyperbilirubinemia type 1,<br> familial cholemia, familial nonhemolytic jaundice
-| image           = Bilirubin.svg
-| caption         = [[Bilirubin]]
-| pronounce       = {{IPAc-en|ʒ|iː|l|ˈ|b|ɛər|z}} {{respell|zheel|BAIRZ}}
-| speciality      = [[Gastroenterology]]
-| symptoms        = None, slight [[jaundice]]
-| complications   = Usually none
-| onset           =
-| duration        =
-| types           =
-| causes          = [[Genetic condition|Genetic]]
-| risks           =
-| diagnosis       =
-| differential    = [[Crigler–Najjar syndrome]], [[Rotor syndrome]], [[Dubin–Johnson syndrome]]
-| prevention      =
-| treatment       = None typically needed
-| 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>.
-==Clinical Presentation==
+[[File:Bilirubin.svg|thumb|right|Diagram of bilirubin metabolism]]
-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.
+'''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]].
-==Etiology and Genetics==
+== Pathophysiology ==
-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.
+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.
-==Triggers==
+== Clinical Presentation ==
-Episodes of jaundice in Gilbert's syndrome may be triggered by stressors such as strenuous exercise, menstruation, fasting, or illness.
+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:
-==Diagnosis==
+* Mild [[jaundice]], particularly during periods of fasting, stress, or illness
+* Fatigue
+* Abdominal discomfort
-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.
+== Diagnosis ==
-==Management==
+Gilbert's syndrome is often diagnosed incidentally during routine blood tests that show elevated levels of unconjugated bilirubin. Further tests may include:
-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>.
+* Liver function tests
+* Genetic testing for mutations in the UGT1A1 gene
-==Epidemiology==
+== Management ==
-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.
+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:
-==See Also==
+* Maintaining a regular eating schedule
+* Managing stress
+* Avoiding fasting
-* [[Liver disease]]
+== Related Conditions ==
+Gilbert's syndrome should be differentiated from other causes of hyperbilirubinemia, such as:
+* [[Crigler-Najjar syndrome]]
+* [[Dubin-Johnson syndrome]]
+* [[Rotor syndrome]]
+== Related Pages ==
+* [[Liver function tests]]
+* [[Jaundice]]
 * [[Bilirubin]]
-* [[Jaundice]]
-==References==
-<references />
 [[Category:Hepatology]]
 [[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]]