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Gilbert’s Syndrome: Causes, Symptoms, Treatment and Prevention

Gilbert’s syndrome is a harmless, genetic disorder where the liver is not able to process bilirubin properly.  Bilirubin is a yellow coloured pigment that is produced in the body, by the normal breakdown of haemoglobin present in the RBCs (red blood cells).

Gilbert's syndrome

This pigment enters into the liver after circulating into the blood stream. From the liver, it enters into small intestines along with bile juices and helps in fat digestion. Eventually, it gets excreted out from the body.

In gilbert’s syndrome, the liver lacks the enzyme (UGT1A1), required for disposal of bilirubin, this leads to increased bilirubin levels in blood. Treatment is not needed. It affects around 3 to 7 percent of American population.

What is Gilbert’s Syndrome?

Gilbert’s syndrome (a. k. a: Constitutional hepatic dysfunction or Familial non-haemolytic jaundice) is a liver disorder characterized by increased level of bilirubin in the blood. It causes jaundice, i.e., yellowing of whites of the eyes and skin in an affected individual.

This condition is inherited from parents in an autosomal recessive (two copies of a gene are required to cause disease) pattern and occasionally, autosomal dominant (one copy of a gene is enough to cause disease) pattern in some cases. The mutations in UGT1A1 gene results in decreased activity of the liver enzyme (uridiphosphate glucuronosyl transferase), which is required for the disposal of bilirubin from the body.

What are the Causes of Gilbert’s Syndrome?

Gilbert’s syndrome is due to the genetic mutations in the promoter region of the gene for the enzyme UGT1A1 (uridiphosphate glucuronosyl transferase), which plays a vital role in the metabolism of bilirubin.

Normally, bilirubin gets metabolised and excreted out through urine and faeces. In case of gilbert’s syndrome, bilirubin gets deposited in the blood stream due to an abnormality of liver enzyme (UGT1A1). This deposition leads to an elevated bilirubin level in the blood, giving a characteristic yellow colouration to the skin and whites of the eye (jaundice). It is a harmless condition, requires no treatment. It is hereditary.

What are the Symptoms of Gilbert’s Syndrome?

The only indication of this condition is yellowish tinge in the eyes and skin. Occasional, episodes of jaundice can be seen due to increased build-up of bilirubin in the blood.

Other signs and symptoms, during episodes of jaundice, include:

  • Abdominal pain
  • Fatigue
  • Dizziness
  • Loss of appetite
  • Stomach cramps
  • Bloating
  • Diarrhoea
  • Constipation
  • Brain fog (unable to think clearly and concentrate)

What are the Risk Factors of Gilbert’s Syndrome?

The risk factors for gilbert’s syndrome are:

Mostly gilbert’s syndrome is noticed after or during puberty, as bilirubin production is elevated or increased during this stage.

An abnormal gene inherited from parents will increase the risk of this condition.

Being a male can increase the risk of gilbert’s syndrome.

Some common triggers, which increase the risk of episodes of jaundice, are:

  • Dehydration
  • Fasting
  • Infections causing illness
  • Monthly menstruation
  • Stress
  • Physical exertion
  • Recent surgery
  • Inadequate sleep
  • Inadequate water consumption

What are the Complications of Gilbert’s Syndrome?

An abnormal functioning of the liver enzyme (UGT1A1) can cause complications with certain medications. The liver enzyme can metabolise bilirubin and also eliminates medications from the body after its action on a particular target. Lack of the liver enzyme can cause some side effects of the medications, such as:

  • Protease inhibitors used for HIV treatment
  • Chemotherapy drug used to treat cancer patients like irinotecan etc.

How to Diagnose Gilbert’s Syndrome?

Gilbert’s syndrome can be diagnosed by using a blood test, liver function test, imaging test and genetic test.

Blood test (complete blood count) and liver function test are performed, to rule the other signs and symptoms, which increases the bilirubin level, apart from jaundice. These tests, will detect elevated bilirubin level in the blood, an indication of gilbert’s syndrome. When the liver is damaged, it releases its enzymes and proteins in the blood. By measuring the proteins and enzymes in the blood, an accurate functioning of the liver can be diagnosed.

Imaging tests include CT scan, ultrasound and liver biopsy. It is conducted to monitor the other conditions that are causing abnormal bilirubin level in the blood.

Genetic test is performed to check the mutations in the gene, responsible for increased bilirubin level in the blood. This test will confirm the diagnosis, as the condition itself is hereditary (runs in families). The mutations are mostly seen in the promoter region of the gene for the enzyme UGT1A1 (uridiphosphate glucuronosyl transferase).

Certain medications like niacin and rifampicin also increase the bilirubin level in the blood that leads to diagnosis.

What is the Treatment of Gilbert’s Syndrome?

Usually no treatment is required for gilbert’s syndrome.  The frequent occurrence of jaundice without any major symptoms  can be seen due to fluctuations in bilirubin level any time in the body.

If significant symptoms, such as nausea and vomiting are observed, then medications are recommended by the doctor to reduce the bilirubin level in the body. Phenobarbital (Luminal) is prescribed to reduce the symptoms.

 What are the Methods of Prevention of Gilbert’s Syndrome?

The preventive methods for gilbert’s syndrome are:

Get plenty of sleep: Sleeping for seven to eight hours is necessary to maintain good health.

Stay hydrated: Drinking lot of water, fluids, and juices can hydrate our skin, especially in hot weather, during exercise and illness.

Avoid vigorous exercise: Exercise should be scheduled, in such a way that strenuous workout for 10 minutes followed by light and moderate workout for 30 minutes each day.

Eat a well-balanced diet: Eat regularly without skipping any meals. Diet should contain all the nutrients required for the body.

Limit intake of alcohol: In liver conditions, alcohol should be avoided. If a person is willing to drink, then few drinks per month are considerable.

Try relaxation techniques to cope with stress: Listening music, yoga, meditation and other relaxation techniques can help to reduce stress.

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