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Gilbert Syndrome-Causes,Symptoms,Diagnosis, and Treatment

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What is Gilbert Syndrome?

Gilbert syndrome is a condition characterized by the existence of high levels of bilirubin in the blood.People with Gilbert’s syndrome present a liver enzyme deficiency,which is responsible for the  bilirubin metabolism.Bilirubin results from hemoglobin – the protein contented in erythrocytes,that gives them the main function of oxygen transport.Hemoglobin is composed of a fraction called heme,and a protein called globin fraction. After the death of erythrocytes, it is released into the blood stream and broken down into heme and globin.The globin fraction is stored in the body to be reused later. The heme fraction will be transformed into a lipid-soluble yellow pigment called free bilirubin (unconjugated, indirect).Free bilirubin is transported to the liver, where it is metabolized by a liver enzyme(glucuroniltransferaza) and it is transformed into conjugated bilirubin – which is soluble in water.In this form, bilirubin is easily included in the bile,which is a fluid produced by the liver cells. The bile plays an important role in digestion,because it is released into the intestine.There under the action of bacteria it is converted into a variety of pigmentation compounds , mainly urobilirogen.Then it is discharged from the body through faeces and urine.

Causes

Gilbert syndrome is a hereditary condition, which means that  it is caused by an abnormal  gene passed from generation to generation within a family.Gene involved in Gilbert’s syndrome is associated with liver enzyme(glucuroniltransferaza) which plays an important role in the metabolism of unconjugated bilirubin (free) in the liver. Genetic mutation leads to the limitation of hepatic enzyme synthesis, which contributs to the increase of unconjugated bilirubin in the body.Gilbert syndrome is a condition present at birth (congenital).

Symptoms

Although the symptoms are rarely obvious, the disease can cause an increase of unconjugated bilirubin levels which is sufficient to cause the appearance of a weak jaundice.  Jaundice is characterized by yellowing of the skin and cornea.  In Gilbert syndrome,predominantly appear yellowing of the eyes.Coloration may become more pronounced in stress condition, infections(especially viral), or if the patient is malnourished or dehydrated. Also, menstruation can be an important factor of increased bilirubin levels, and consequently the  jaundice will be more intense.Although jaundice is the only clinical symptom recognized, many people with Gilbert’s syndrome reported a number of common events that assigns disease.

The most common symptoms are:

  • fatigue;
  • decreased appetite;
  • nausea or dizziness;
  • abdominal pain;
  • Irritable bowel syndrome;
  • disturbance of concentration;
  • dark urine.
Diagnosis
Gilbert syndrome is most often found accidentally in a blood test done for other health problems.
Although present at birth,the syndrome is usually not diagnosed  until puberty or even later, when the synthesis of bilirubin increases.Blood tests used in diagnosis of Gilbert syndrome include blood counts and liver function tests.
The liver function tests  determine the ability of  liver to metabolize and convert the bilirubin into bile. Bilirubin value is considered a significant marker of liver activity.
The increased levels of  unconjugated bilirubin ,in the blood can indicate the presence of the syndrome. However, the level of bilirubin in Gilbert’s syndrome may fluctuate and they may be within the normal range for a certain period of time, so the test must be repeated.
A value of unconjugated bilirubin more than 17 umol / L  is considered abnormal.
Treatment
Gilbert syndrome usually causes mild symptoms, and require no treatment. Jaundice associated with the syndrome is less obvious and disappears with no medical intervention.
People affected  does not require medical monitoring, but is necessary to  consult a doctor if you notice that the  jaundice or other symptoms are more intensified.

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