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Gilbert's syndrome
A benign liver disorder causing mild jaundice due to bilirubin buildup.
Overview
Gilbert's syndrome is a common, mild liver disorder in which the liver does not properly process bilirubin, a yellow pigment formed by the breakdown of red blood cells. As a result, affected individuals may have slightly elevated levels of unconjugated (indirect) bilirubin in their blood, occasionally leading to episodes of jaundice (yellowing of the skin or eyes). The condition is usually harmless and often discovered incidentally during routine blood tests. Gilbert’s syndrome does not lead to liver damage or other serious health problems.
Causes
Gilbert's syndrome is caused by a mutation in the UGT1A1 gene, which provides instructions for making an enzyme called uridine diphosphate-glucuronosyltransferase (UGT1A1). This enzyme is essential for processing bilirubin in the liver. In people with Gilbert’s syndrome, reduced activity of UGT1A1 slows the conversion of unconjugated bilirubin into its water-soluble, excretable form, leading to its buildup in the bloodstream.
The condition is inherited in an autosomal recessive pattern, meaning a person must inherit a mutated gene from both parents to be affected.
Symptoms
Most individuals with Gilbert’s syndrome are asymptomatic or experience only mild, occasional symptoms. When symptoms do occur, they may include:
Mild jaundice: Yellowing of the skin or the whites of the eyes, especially during illness, fasting, stress, or dehydration
Fatigue or weakness: Reported by some individuals, though not clearly linked to the syndrome
Abdominal discomfort: Rare and nonspecific
Symptoms often appear during adolescence and may come and go throughout life, typically triggered by physical or emotional stress.
Diagnosis
Gilbert's syndrome is usually diagnosed incidentally during blood tests showing elevated unconjugated bilirubin. Diagnostic steps may include:
Blood tests: Mildly elevated total and unconjugated bilirubin levels with normal liver function tests (ALT, AST, ALP)
Rule out other causes of jaundice: Such as hemolytic anemia or liver disease
Genetic testing: May confirm mutation in the UGT1A1 gene, though often not necessary
No imaging or invasive procedures are usually needed unless other liver or blood disorders are suspected.
Treatment
Gilbert’s syndrome does not require treatment in most cases. Management involves education and lifestyle adjustments:
Reassurance: Understanding that the condition is benign helps reduce anxiety over occasional jaundice
Hydration and regular meals: To avoid fasting and dehydration, which can trigger symptoms
Stress management: To minimize symptom flares
Medication caution: Some drugs metabolized by UGT1A1 (e.g., irinotecan) may require careful use
In rare cases of persistent or distressing jaundice, phenobarbital has been used to lower bilirubin levels, though it is rarely necessary.
Prognosis
The prognosis for individuals with Gilbert’s syndrome is excellent. It is a lifelong condition but does not progress or cause liver damage. People with Gilbert’s syndrome have a normal life expectancy and can lead healthy lives without limitations. Awareness of the condition helps avoid unnecessary investigations or treatments for benign episodes of jaundice. Long-term complications are not associated with this syndrome, making it one of the most benign inherited metabolic conditions.
Medical Disclaimer
The information provided on this page is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.