Gilbert’s Syndrome (GS) is a medical condition in which you have higher than usual amounts of bilirubin in your blood. The medical name for this is ‘unconjugated hyperbilirubinaemia’.GS was first identified by French doctors Nicolas Augustin Gilbert and Pierre Lereboullet in 1900.
Gilbert’s syndrome is in fact a harmless condition. It is not a disease and you may not even know you have it. It is usually discovered accidentally if you have routine blood tests which show high (or raised) serum bilirubin. Although a benign condition, some people do report some ill-effects from GS.
What is bilirubin?
Bilirubin is a derivative of the breakdown of old red blood cells. It contains haemoglobin, an important protein that helps convey oxygen around your body.
Red blood cells last about 120 days and when they expire the haemoglobin is broken down into haem and globin. Globin is a protein that is stored by by the body for later use. Haem is a waste material that needs to be flushed from the body. In order to be ‘flushed’ out, the haem is broken down into an orangey-yellow pigment known as ‘free’ bilirubin, a fat-soluble form that is transported to your liver. Bilirubin is then metabolised by a liver enzyme called urodine diphosphate glucuronosyltransferase (UGT) and modified to a water-soluble form.This is known as conjugated bilirubin.
The watery substance is more easily excreted into bile (a fluid produced by the liver to aid digestion). It travels in the bile through your gall bladder and into your small intestine, where it is converted by bacteria into a many pigment substances, mainly urobilinogen. It is eventually excreted by the body in your urine and faeces.
In GS, you do not have enough of the UGT enzyme to modify the bilirubin at the normal rate. This causes a build up of unmetabolised or ‘unconjugated’ bilirubin in your blood.
Who gets Gilbert’s syndrome?
Today GS is relatively common and thought to affect around 4% of the population, both males and females.
GS is thought to be hereditary, caused by a variant gene that has a ‘mutation’. This mutation causes ‘reduced gene expression’, meaning that it limits production of the specific UGT enzyme (UGT1A1) responsible for conjugating bilirubin.
There is no established genetic test for GS yet.
Symptoms of Gilbert’s Syndrome
A significant increase in your bilirubin levels may lead to jaundice. This is a yellowing of the skin and whites of the eyes. This can become more obvious when you are stressed, ill with infection (particularly viral), starved or dehydrated. Menstruation can also cause a rise in bilirubin levels. Other symptoms include:
• nausea, dizziness, loss of appetite
• abdominal pain
• irritable bowel syndrome (IBS)
• difficulty concentrating
• very dark urine
At least 30% of people with GS do not show any symptoms at all.
So what do I do if I am diagnosed with Gilbert’s Syndrome?
You must start by looking after yourself. Having GS should not prevent you from leading a normal life in any way. However, in order to prevent further rise in your bilirubin it is best to avoid the following where possible:
• dieting or fasting
• emotional stress/anxiety
• infectious illness
• heavy physical exertion
• lack of sleep
It is also important that you:
• eat regularly and healthily
• drink plenty of water
• avoid fatty or sugary foods