Gilbert’s syndrome: Causes, Symptoms, Diagnosis and Treatment

It is a mild genetic liver disorder in which the body can not properly process bilirubin.

A yellowish waste product that is formed when old or worn out red blood cells break down (hemolysis).

People with Gilbert syndrome have elevated levels of bilirubin, because they have a reduced degree of a specific liver enzyme needed for the removal of bilirubin.

Most affected individuals have no symptoms (asymptomatic) or only show a slight yellowing of the skin, mucous membranes and whites of the eyes (jaundice).

In some individuals, jaundice can only be apparent when triggered by one of these conditions.

Causes

Gilbert’s syndrome is a genetic condition that is inherited as an autosomal recessive trait.

Genetic diseases are determined by the combination of genes for a particular trait found in the chromosomes received from both the father and the mother.

Researchers have determined that Gilbert’s syndrome is caused by mutations in the UGT1A1 gene.

This gene contains instructions for creating (coding) a liver enzyme known as uridine disphosphate-glucuronosyltransferase-1A1 (UGT1A1).

Bilirubin circulates in the blood (plasma) bound to a protein called albumin; in a form of unconjugated bilirubin, which does not dissolve in water (insoluble in water).

Normally, this unconjugated bilirubin is absorbed by the cells of the liver and, with the help of the enzyme UGT1A1, it is converted into bilirubin glucuronides soluble in water (conjugated bilirubin), which are then excreted in the bile.

Bile stores it in the gallbladder and, when requested, it passes into the common bile duct and then into the upper portion of the small intestine (duodenum) and aids digestion and eventually exits the body through the stool.

Symptoms of Gilbert’s syndrome

About one in three people with Gilbert’s syndrome does not experience any symptoms at all.

Therefore, you may not realize that you have the syndrome until tests are done for an unrelated problem.

Most people with Gilbert’s syndrome experience occasional, short-lived episodes of jaundice (yellowing of the skin and whites of the eyes) due to the buildup of bilirubin in the blood and may not appear until adolescence.

These episodes are usually mild and occur when the body is under stress, for example due to dehydration, prolonged periods without food (fasting), illness, strenuous exercise or menstruation.

Some people with Gilbert’s syndrome also experience abdominal discomfort or fatigue.

However, approximately 30 percent of people with Gilbert’s syndrome have no signs or symptoms of the disease and are discovered only when routine blood tests reveal elevated levels of unconjugated bilirubin.

Diagnosis

People with Gilbert syndrome are usually diagnosed in late adolescence or early twenties.

The diagnosis is based on the presence of slightly elevated levels of conjugated bilirubin in the blood and the appropriate clinical situation.

The elevated level of bilirubin observed in routine laboratory tests can be diagnosed by a blood test to measure bilirubin levels in the blood and a liver function test.

When the liver is damaged, it releases enzymes in the blood, at the same time, the protein levels that the liver produces to keep the body healthy begin to decrease.

By measuring the levels of these enzymes and proteins, it is possible to construct a reasonably accurate picture of how well the liver is functioning.

If the test results show that you have high levels of bilirubin in your blood, but your liver is functioning normally, you can usually make a reliable diagnosis of Gilbert’s syndrome.

In some cases, a genetic test may be necessary to confirm a diagnosis of Gilbert’s syndrome.

Treatment for Gilbert’s syndrome

In most cases, Gilbert’s syndrome does not cause symptoms and no treatment is necessary, but, it is important to make sure that the person does not have another more serious condition.

Gilbert syndrome is considered a mild, harmless (benign) condition and is associated with normal life expectancy.