Gilbert's syndrome is a common genetic disorder caused by an abnormal gene or mutation that reduces the liver's ability to properly process and detoxify bilirubin in the bloodstream. The mutation responsible for Gilbert's syndrome, creates a reduction in effectiveness in an enzyme that is responsible for breaking down bilirubin. Bilirubin is a yellowish pigment found in bile that aids in digestion. Too much built-up bilirubin in the blood can cause jaundice (the yellowing of skin and the whites of the eyes).
Gilbert's syndrome is a mild condition and is not considered dangerous, as it typically does not cause problems. Many individuals are unaware that they have the condition. Jaundice, which occurs from an excessive buildup of bilirubin, can be problematic for some.
Gilbert's syndrome is caused by a genetic abnormality or genetic mutation in the UGT1A1 gene. Mutations in the UGT1A1 gene are fairly common and are passed from generation to generation.
Because Gilbert's syndrome often does not present any symptoms, many people are unaware that they have the condition. When symptoms are present they may include:
• Jaundice, which can occur if too much bilirubin has accumulated in the bloodstream
• Abdominal pain
Gilbert's syndrome is often found in the presence of elevated bilirubin levels or jaundice, without any other apparent cause. Doctors often perform a series of tests in order to understand the overall condition of the liver.
Blood tests such as liver function tests, complete blood count tests and total bilirubin tests may be performed.
The combination of high bilirubin levels with normal liver function tests or complete blood count tests indicate a diagnosis of Gilbert's syndrome.
Gilbert's syndrome does not require treatment. Sometimes bilirubin levels within the body fluctuate, causing jaundice. Jaundice generally disappears on its own. If you have concerns about jaundice caused by Gilbert's syndrome, contact your doctor to discuss options.
It is estimated that 3%-10% of the U.S. population has Gilbert's syndrome, making it a fairly common genetic mutation. Many people with Gilbert's syndrome are never diagnosed because it often produces no symptoms.