Gilbert Syndrome

Overview

Gilbert syndrome is a common, inherited condition in which the liver is slightly less efficient at processing bilirubin, a yellow waste product formed when old red blood cells break down. Because of a reduced amount of the enzyme that normally helps clear bilirubin, levels in the blood can rise a little, especially at certain times such as during fasting, illness, or stress.

Gilbert syndrome is harmless. It does not damage the liver or shorten life, and many people who have it never know unless it is found by chance on a blood test. The main importance of recognizing it is to provide reassurance and to avoid unnecessary tests or treatment when mildly elevated bilirubin is detected.

Symptoms

Most people with Gilbert syndrome have no symptoms at all. When symptoms do occur, they are mild and intermittent:

• Mild jaundice, a slight yellowing of the skin or the whites of the eyes, that comes and goes
• Episodes often triggered by fasting, dehydration, illness, infection, strenuous exercise, lack of sleep, or stress

Some people report mild fatigue or vague abdominal discomfort, but these are not clearly caused by the raised bilirubin itself. Gilbert syndrome does not cause dark urine, pale stools, itching, or other signs of liver disease; if those occur, another cause should be looked for.

Causes

Gilbert syndrome is caused by an inherited change in a gene (UGT1A1) that provides instructions for an enzyme the liver uses to process bilirubin. The variation reduces enzyme activity, so bilirubin is cleared a little more slowly and can accumulate in the blood, producing what is called unconjugated hyperbilirubinemia.

The condition is usually inherited and present from birth, though it often becomes noticeable only in the teenage years or adulthood when bilirubin is first measured. Bilirubin levels tend to rise during fasting, illness, or other stresses on the body, which is why jaundice may appear intermittently.

Risk Factors

• A family history of Gilbert syndrome, since it is inherited
• Being male, as it is recognized somewhat more often in men
• Situations that raise bilirubin temporarily, such as fasting, dehydration, illness, intense exercise, or lack of sleep (these reveal rather than cause the condition)

Diagnosis

Gilbert syndrome is often discovered incidentally and diagnosed by ruling out other causes of raised bilirubin.

• Blood tests: a mildly elevated unconjugated (indirect) bilirubin with normal other liver tests and a normal blood count strongly suggests Gilbert syndrome.
• Excluding other causes: tests to make sure there is no red cell breakdown (hemolysis), hepatitis, or bile duct problem.
• Genetic testing: available but usually not needed, since the typical blood pattern in an otherwise healthy person is enough.

Treatment

Gilbert syndrome does not require treatment. Because it is harmless and does not damage the liver, no medication or special diet is needed. Care focuses on reassurance and simple awareness:

• No specific therapy: the mild rise in bilirubin and occasional jaundice are not harmful.
• Recognizing triggers: staying hydrated, eating regularly, getting enough sleep, and managing stress can reduce episodes of visible jaundice.
• Medication awareness: rarely, Gilbert syndrome can affect how a few specific drugs are processed, so it is worth mentioning the diagnosis to healthcare providers.

The condition does not need ongoing monitoring of liver function in most people.

Prevention

Gilbert syndrome cannot be prevented because it is inherited, and it does not need to be, since it causes no harm. To minimize episodes of visible jaundice you can:

• Stay well hydrated and avoid prolonged fasting
• Eat regular, balanced meals
• Get adequate sleep and manage stress
• Mention the diagnosis to doctors so it is not mistaken for liver disease

When to See a Doctor

Gilbert syndrome is benign, but see a doctor to confirm the diagnosis the first time mild jaundice or raised bilirubin is found, so other causes can be excluded. Seek medical evaluation if you develop signs that are not typical of Gilbert syndrome, such as:

• Dark urine, pale stools, or itching
• Persistent or deepening jaundice
• Abdominal pain, nausea, or unexplained weight loss
• Fatigue that is significant or worsening

These suggest a different liver or blood condition that should be investigated.

Related Topics

Frequently Asked Questions

References

1. Mayo Clinic. Gilbert's syndrome — Symptoms and causes.
2. MedlinePlus, U.S. National Library of Medicine. Gilbert syndrome.
3. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Liver disease.
4. Genetic and Rare Diseases Information Center (GARD).