Gilbert syndrome is a common and benign liver disorder often discovered accidentally when a blood test reveals elevated bilirubin levels. The liver is unable to process bilirubin, which is a substance produced by the breakdown of red blood cells.
This syndrome, which was first described in 1901 by Augustine Gilbert and Pierre Lereboullet, is also called constitutional hepatic dysfunction, unconjugated benign bilirubinemia, and familial nonhemolytic jaundice.
It is an inherited condition linked to an abnormal gene that controls the enzyme which helps to break down bilirubin. Bilirubin travels through the bloodstream to the liver. Normally, an enzyme in the liver cells break down bilirubin and eliminates all but a small amount from the bloodstream. Bilirubin passes from the liver into the intestines with bile and is excreted in stool. With Gilbert syndrome, there is a decreased level of this enzyme and excessive amounts of a form of bilirubin known as unconjugated bilirubin appear in the blood. The elevated bilirubin levels produce mild jaundice,initially turning the whites of the eyes yellow and progressing to the development of a yellowish skin tinge.
Gilbert syndrome is present from birth. It affects 3 to 7% of the U.S. population, males more than females. It is usually diagnosed at puberty or later, when bilirubin production increases. More than half of the general population carries one copy of this abnormal gene. If both parents carry the abnormal gene, they may, but not always, pass the genetic defect to their offspring.
With Gilbert syndrome, except for an episode of jaundice, there are not physical symptoms. Possible symptoms are fatigue, weakness, and abdominal pain. Certain factors such as a cold, menstruation, fasting, dehydration, and overexerting may increase bilirubin levels in patients with this syndrome. Diagnostic testing includes a complete blood count (CBC) and liver function tests. Since jaundice and an elevated bilirubin level are associated with more serious conditions such as hepatitis or an obstructed bile duct, your physician may recommend further testing to confirm a diagnosis.