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What is Gilbert’s Syndrome?

By Dr Ananya Mandal, MD

The liver

The liver is essentially like a factory in the body. It carries out many vital functions of metabolism and synthesis of vital enzymes that are necessary for normal life.

The liver continues to function even when damaged and has the capacity of regenerating itself when damaged. It can renew large sections of itself after injury for example.

Primary functions of the liver

Primary functions of the liver include:

  • fighting infections and disease
  • dealing with and rendering harmless poisons and drugs
  • cleansing blood of toxins
  • regulating amounts of cholesterol in blood
  • regulating levels of hormones
  • producing chemicals and enzymes needed for other functions like blood clotting, digestion etc.
  • producing bile that helps break down food
  • storing energy, sugars, vitamins and minerals like iron for use when necessary (1-5)

Who first identified Gilbert’s syndrome?

Gilbert’s syndrome was first identified by the French doctors Nicolas Augustin Gilbert and Pierre Lereboullet in 1900.

They described the condition as a combination of symptoms of a benign but continuous or chronic jaundice that occurred without any other symptoms of liver disease.

Who does Gilbert’s syndrome affect?

Gilbert’s syndrome affects around one person in 20 or about 4% of the general population.

Both sexes are equally affected but it is more common in men than in women. It is often first diagnosed in the late teens or early twenties.

In most of the cases Gilbert’s syndrome runs in families – i.e. it is hereditary. The blue prints of all functions and development of the body lie in the genes.

In patients with Gilbert’s syndrome there may be an error or mutation in one of the genes leading to the condition. (1-5)

What causes Gilbert’s syndrome?

Bilirubin is found naturally in the blood. Bilirubin helps in the removal of the dead red blood cells.

In Gilbert's syndrome, this process of removal of bilirubin does not work properly. In GS the mutation causes ‘reduced gene expression’, meaning that it limits production of the specific uridine-diphosphate glucuronosyltransferase or UGT enzyme (called UGT1A1) that is important for conjugating bilirubin from its fat-soluble free or unconjugated form.

This conjugation means changing free bilirubin with a process called glucoronidation using the UGT enzyme.

Is there a test for Gilbert’s syndrome?

At present there is no established genetic test for Gilbert’s syndrome.

Other names for Gilbert’s syndrome

Gilbert’s syndrome (GS) is a condition where the amounts of bilirubin in the body are raised. This is called “unconjugated hyperbilirubinemia”.

Gilbert’s syndrome is also called familial nonhaemolytic bilirubinaemia or constitutional hepatic dysfunction.

Is treatment needed for Gilbert’s syndrome?

Gilbert’s syndrome is basically a harmless condition where treatment may not be necessary at all.

Many people in fact are unaware that they have the condition. Gilbert’s syndrome is usually detected when a routine or unrelated blood test reveals a high level of bilirubin in blood.

Since high levels of bilirubin are seen with some other more severe conditions as well, it is important to evaluate the cases of high bilirubin and exclude the presence of other conditions that need therapy. (1-5)

Reviewed by , BA Hons (Cantab)

Further Reading

Last Updated: Oct 8, 2014

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