People with Gilbert’s Syndrome are often diagnosed after a blood test shows a high level of bilirubin in their blood. You may have gone to the Dr with an unrelated problem, or have presented with a number of symptoms such as feeling tired all the time, feeling sick, jaundice (yellow skin or eyes), abdominal pain, IBS, lack of concentration, and generally feeling unwell. At least 30% of people with Gilbert’s Syndrome may have no symptoms at all.
The Dr will first rule out other liver problems, usually through liver function tests on your blood which will show if the liver is damaged as well as checking the level of bilirubin, and provided you have no other easily identifiable problem you may be diagnosed with Gilbert’s Syndrome.
Sometimes tests are conducted before and after a 48 hour fast as this seems to really raise the bilirubin levels in people with Gilbert’s Syndrome. Bilirubin levels in people with Gilbert’s Syndrome can change over time, and so may be missed if they happen not to be raised at the time of the blood test. Bilirubin is measured in millimoles per litre (umol/L). Total serum bilirubin higher than 17 umol/L is outside the normal range. The bilirubin typically fluctuates in the range of 20 – 40 mmol/L although normal values may occur, and results as high as 80 mmol/L may be seen in patients who have not consumed food for several days. Gilbert’s Syndrome is the most common cause of raised bilirubin levels, however there are rare and more serious conditions such as Criglar-Najjar Syndrome which is inherited from the same gene.
Very rarely a liver biopsy may be performed to rule out other liver conditions, and you may also be offered genetic testing.
Unfortunately, after diagnosis you are likely to be offered little help to deal with your symptoms. However, if you are experiencing nausea, IBS, or other problems you may be prescribed medication that can help. For other symptoms, well, we’re here to help and hopefully some of the information on this website will help you live better with Gilbert’s Syndrome.