Gilbert鈥檚 syndrome
Also known as: constitutional hepatic dysfunction, familial nonhemolytic jaundice
At AOA体育平台 we offer advanced genetic testing and diagnosis for Gilbert鈥檚 syndrome. Book an appointment with one of our leading hepatologists and get a diagnosis in days.
What is Gilbert鈥檚 syndrome?
Gilbert鈥檚 syndrome is a common liver condition where having a specific gene means you can鈥檛 get rid of a substance called bilirubin as well as you should. The liver produces bilirubin as a byproduct when it breaks down old red blood cells.
Bilirubin is normally excreted out of the body in your bile and stool through your large intestine.
With Gilbert鈥檚 syndrome the bilirubin isn鈥檛 properly excreted from your body and stays in your bloodstream which can cause your skin to turn slightly yellow.
It鈥檚 estimated around one in twenty people have Gilbert鈥檚 syndrome but many don鈥檛 know it because symptoms can be very mild and difficult to diagnose.
Although it鈥檚 present from birth, Gilbert鈥檚 syndrome isn鈥檛 normally noticed until puberty.
What are the symptoms of Gilbert鈥檚 syndrome?
The symptoms of Gilbert鈥檚 syndrome can be mild and go unnoticed, but often it can come up as:
- Yellowing of the skin and whites of the eyes (jaundice)
- Tiredness (fatigue)
- Feeling sick (nausea)
- Vomiting
- Upset stomach
- Headaches
- Anxiety
- Insomnia
Physical and emotional stress can trigger Gilbert鈥檚 syndrome symptoms or make them worse.
Common triggers include:
- Strenuous physical exertion
- Sleep deprivation
- Infection with a virus
- Menstruation
- Dehydration
- Surgery
- Bereavement
- Traumatic life event
If you have Gilbert鈥檚 syndrome you may find it harder to recover from stress. You may find symptoms of tiredness and yellowing of the skin become more noticeable.
How is Gilbert鈥檚 syndrome diagnosed?
Gilbert鈥檚 syndrome can be difficult to diagnose because many of the symptoms such as tiredness and stomach upset mimic other conditions.
Most people don鈥檛 know they have Gilbert鈥檚 syndrome unless they develop jaundice where their skin or eyes start to yellow.
Some people find out they have Gilbert鈥檚 syndrome when they go for a routine blood test and find out their bilirubin levels are higher than normal.
If you think you have Gilbert鈥檚 syndrome and want to confirm a diagnosis, one of our liver doctors (hepatologists) can help you find out.
At AOA体育平台 your hepatologist will ask you about your medical history and look at your symptoms and any physical characteristics such as yellowing of the skin or eyes.
They will send you for a couple of tests including:
- Blood test to measure the levels of bilirubin in your blood
- Liver function test to check that the jaundice isn鈥檛 caused by other conditions, like haemolytic anaemia or hepatitis
If the test results show you have high levels of bilirubin in your blood, but your liver is working well, it confirms a positive diagnosis of Gilbert鈥檚 syndrome.
Your hepatologist may offer you a genetic test to confirm if you have a mutation of the UGT gene.
You usually need to inherit abnormal copies of the UGT gene from both parents to develop Gilbert鈥檚 syndrome.
How is Gilbert鈥檚 syndrome treated?
There is no cure for Gilbert鈥檚 syndrome as it is caused by a specific gene in DNA, and this makes it a lifelong condition.
It鈥檚 not a threat to your health and won鈥檛 increase your risk of liver disease, however there are ways to improve and manage your symptoms.
For example, you need to avoid medication or drugs that inhibit the UGT enzyme or impair the breakdown of red blood cells, such as:
- Atazanavir (Reyataz庐) and indinavir (Crixivan庐) used to treat HIV infection
- Gemfibrozil (Lopid庐), that lowers cholesterol
- Irinotecan (Camptosar庐), that treats advanced bowel cancer
- Paracetamol, which is partly metabolised by UGT so you may want to try a different painkiller
Statins are only partly metabolised by the UGT so they are safe in most people with Gilbert鈥檚 syndrome.
Speak to your specialist about any medications you鈥檙e taking to ensure they don鈥檛 require the UGT enzyme to help clear them from your body, and that they don鈥檛 impair the breakdown of red blood cells.
Reducing how much alcohol you drink may be something you want to consider, as people who have Gilbert鈥檚 syndrome tend to experience hangovers that are more severe than people who don鈥檛.
Living with Gilbert鈥檚 syndrome
Jaundice and Gilbert鈥檚 syndrome do not damage the liver or cause complications so there鈥檚 no specific treatment for it.
Most people manage the condition by taking extra care of themselves when they are ill or under stress so their body can recover more quickly.
Episodes of jaundice are usually short lived and don鈥檛 increase the risk of other serious conditions.
You can talk to your hepatologist about any concerns you may have and undergo any tests to gain peace of mind.