Gilbert’s Syndrome

Gilbert Syndrome – Common Harmless Genetic Liver Disorder

GilbertSyndrome also called Gilbert Meulengracht syndrome is a common harmless genetic liver disorder caused due to increased bilirubin, a chemical which results from the normal breakdown of haemoglobin from red blood cells. It is a condition where high levels of bilirubin tend to build up in the blood. Bilirubin is the yellow pigment which is found naturally in the blood that forms when the red blood cells are broken down.

This disorder is also referred as constitutional hepatic dysfunction and familial nonhemolytic jaundice. The abnormality results in mild elevation of bilirubin in the blood especially after starvation or dehydration. Gilbert syndrome is the outcome of a genetic mutation in promoter region of a gene and the gene is on chromosome 2 while other types of mutation in the same gene could cause Crigler-Najjar syndrome which appears to be more severe as well as a dangerous type of hyperbilirubinemia – high bilirubin in the blood.

The cause of hyperbilirubinemia is the outcome of reduced activity of the enzyme glucuronyltransferase that binds bilirubin with other lipophilic molecules rendering the bilirubin water soluble which is then excreted in bile into the duodenum.

Short Lived Incidents of Jaundice

Persons suffering from Gilbert’s syndrome may experience occasional and short lived incidents of jaundice and the skin and the white area of the eyes may turn slightly yellow while others may have problems during episodes of jaundice like abdominal pain, loss of appetite, feel tired or sick, dizziness, irritable bowel syndrome – IBS, which is a common condition causing stomach cramps, bloating, constipation and diarrhoea and problems on focusing and thinking clearly.

These symptoms may not be directly related to increased bilirubin levels and could also be the result of other disorder, than Gilbert’s syndrome. This disorder produces an increased level of unconjugated bilirubin in the bloodstream though it does not cause any serious consequences. Mild instances of jaundice may occur under conditions of stress, fasting, exertion and infection while severe cases will be yellowing of the skin tone as well as the sclera in the eye.

Faulty Gene

In the case of Gilbert’s syndrome, the person has faulty gene which means that their liver has problems in removing the bilirubin in the blood. In normal situation, when red blood cells reach the end of their life which is about 120 days, the red pigment, haemoglobin that carries oxygen in the blood breaks down into bilirubin where the liver converts it into water soluble form and thereafter it passes into bile and eventually removed from the body through urine or stools.

Bilirubin gives the urine its light yellow colour and stools their dark brown colour. In this disorder, the faulty gene which means the bilirubin does not pass into the bile normally and instead it builds up in the bloodstream causing the skin and eyes with the yellowish tinge. Besides inheriting the faulty gene, there are no known factors for the development of this disorder and are not related to any environmental factors, lifestyle habits or serious underlying liver problems like cirrhosis or hepatitis C.

Though it is a long term condition, it does not require any treatment and is not a threat to health. Episodes of jaundice with any associated symptoms are short term and will gradually pass off.