Gilbert's syndrome: Difference between revisions
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{{Infobox medical condition | |||
[[File:Bilirubin.svg| | | name = Gilbert's syndrome | ||
| image = [[File:Bilirubin.svg|250px]] | |||
| caption = Chemical structure of [[bilirubin]] | |||
| synonyms = [[Constitutional hepatic dysfunction]], [[familial nonhemolytic jaundice]], [[hyperbilirubinemia type 1]] | |||
| pronounce = | |||
| specialty = [[Gastroenterology]], [[Hepatology]] | |||
| symptoms = Mild [[jaundice]], [[fatigue]], [[abdominal pain]] | |||
| onset = Typically in [[adolescence]] or [[young adulthood]] | |||
| duration = [[Chronic]] | |||
| causes = [[Genetic mutation]] in the [[UGT1A1]] gene | |||
| risks = | |||
| diagnosis = [[Blood test]] showing elevated [[unconjugated bilirubin]] | |||
| differential = [[Hemolytic anemia]], [[Crigler-Najjar syndrome]], [[Dubin-Johnson syndrome]], [[Rotor syndrome]] | |||
| treatment = Usually none required | |||
| medication = | |||
| 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]]. | '''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 == | == 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. | 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 == | == 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: | 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 | * Mild [[jaundice]], particularly during periods of fasting, stress, or illness | ||
* Fatigue | * Fatigue | ||
* Abdominal discomfort | * Abdominal discomfort | ||
== Diagnosis == | == Diagnosis == | ||
Gilbert's syndrome is often diagnosed incidentally during routine blood tests that show elevated levels of unconjugated bilirubin. Further tests may include: | 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 | * Liver function tests | ||
* Genetic testing for mutations in the UGT1A1 gene | * Genetic testing for mutations in the UGT1A1 gene | ||
== Management == | == 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: | 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 | * Maintaining a regular eating schedule | ||
* Managing stress | * Managing stress | ||
* Avoiding fasting | * Avoiding fasting | ||
== Related Conditions == | == Related Conditions == | ||
Gilbert's syndrome should be differentiated from other causes of hyperbilirubinemia, such as: | Gilbert's syndrome should be differentiated from other causes of hyperbilirubinemia, such as: | ||
* [[Crigler-Najjar syndrome]] | * [[Crigler-Najjar syndrome]] | ||
* [[Dubin-Johnson syndrome]] | * [[Dubin-Johnson syndrome]] | ||
* [[Rotor syndrome]] | * [[Rotor syndrome]] | ||
== See also == | |||
== | |||
* [[Liver function tests]] | * [[Liver function tests]] | ||
* [[Jaundice]] | * [[Jaundice]] | ||
* [[Bilirubin]] | * [[Bilirubin]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
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:
