Some people tend to have a yellow discoloration of the sclera (the white of the eye) or the skin without other symptoms of liver disease. The vast majority of these people have what is called Gilbert’s syndrome or Gilbert´s disease. This is a very common benign condition (approximately 9% of the population is affected).
Some situations such as prolonged fasting, sleep deprivation, infection, stress or surgery can cause the bilirubin level to increase further. It is important to recognize this condition to avoid unnecessary tests and studies.
The most common situation that leads to this diagnosis is the finding of elevated bilirubin in blood tests made for routine or for symptoms not related to the liver. This finding often generates anxiety in the patient and, worse, it may lead the physician who is not familiar with this condition to perform a series of tests are not necessary.
The definig finding in liver function tests Blood tests is an increased total bilirubin, but with a conjugated bilirubin (also called “direct”) in normal range. Total bilirubin rarely exceeds 5 mg / dL. Other common tests such as liver transaminases (SGOT and SGPT), alkaline phosphatase (ALP), gamma glutamyl transpeptidase (GGT), albumin and prothrombin time are within normal limits. Usually a CBC is also performed to rule out hemolysis (a condition characterized by accelerated destruction of red blood cells), as these diseases can give a similar pattern of elevated bilirubin.
Gilbert syndrome is related to a reduced ability to excrete bilirubin in the liver cell. Bilirubin is a product of the degradation of hemoglobin present in red blood cells. Normally, bilirubin is taken up by the liver and “conjugated” (attached) to glucuronic acid, which allows it to be soluble in water, so it can be excreted in the bile. The enzyme is called conjugated bilirubin uridine diphosphate glucuronyl transferase (UGT). Its production is regulated by a promoter that may have a mutation causing a decreased production of this enzyme. Gilbert’s syndrome is inherited as an autosomal recessive trait.
No treatment is required for Gilbert´s syndrome.