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.
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).
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:
- decreased appetite;
- nausea or dizziness;
- abdominal pain;
- Irritable bowel syndrome;
- disturbance of concentration;
- dark urine.