Gilbert's syndrome is a common and harmless genetic condition that affects the liver's ability to process a substance called bilirubin. The yellowish pigment produced by red blood cells is bilirubin. The liver normally converts bilirubin and excretes it through bile and urine. Gilbert's syndrome, however, causes a build-up of bilirubin in the blood as a result of a reduced activity of this enzyme. Jaundice is a condition that causes the skin and the whites of the eyes to appear yellow.
The UGT1A1 gene, which codes for the enzyme that breaks down bilirubin, is mutational in Gilbert's syndrome. This mutation is inherited from one or both parents, and it occurs from birth. Gilbert's syndrome affects about 3 to 7 percent of people in the United States, and it is more common in men than women. The mutation does not affect the liver function or cause any serious health problems.
It is common for Gilbert's syndrome patients to not have any noticeable symptoms, and they may not be aware of their condition until they have a blood test for another reason. The level of bilirubin in the blood can vary based on several factors, including stress, illness, fasting, dehydration, menstruation, or alcohol consumption. Some people may experience mild jaundice. It is possible for these factors to worsen or trigger the jaundice, but it usually goes away on its own after a few days or weeks. Other possible symptoms of Gilbert's syndrome include:
Fatigue
Abdominal discomfort
Nausea and diarrhea
Difficulty concentrating
Dark urine or pale stools
The blood level of bilirubin can be measured to determine Gilbert's syndrome. The normal range for bilirubin is 0.3 to 1.2 milligrams per deciliter (mg/dL). The majority of bilirubin in Gilbert's syndrome patients is unconjugated, meaning it has not been processed by the liver. Gilbert's syndrome is primarily diagnosed by a high level of unconjugated bilirubin. A genetic test can confirm the presence of the UGT1A1 mutation, but it is not routinely performed for patients with Gilbert's syndrome. Other liver tests, such as liver enzymes and albumin, are usually normal in people with Gilbert's syndrome.
There is no specific treatment for Gilbert’s syndrome, as no damage is caused to the liver or other organs. Jaundice does not need to be treated unless it causes emotional or cosmetic distress. In that case, some medications, such as phenobarbital, can lower the bilirubin level by stimulating the enzyme activity. However, these medications have side effects and are not recommended for long-term use. Although Gilbert's syndrome does not require special diet or lifestyle changes, there are some general tips to prevent or reduce jaundice, including:
Drinking plenty of water to stay hydrated
Eating regular and balanced meals to avoid fasting
Avoiding excessive alcohol consumption, as it can interfere with the liver function
Managing stress and getting enough sleep
Consulting a doctor before taking any new medications, as some drugs can increase the bilirubin level or interact with the liver enzyme
The genetic condition Gilbert's syndrome cannot be prevented, but by undergoing genetic counseling and testing prior to giving birth, the mutation can be prevented from being passed on to subsequent generations. Using this information, you can determine if you are at higher risk of having a child with Gilbert's syndrome, Crigler-Najjar syndrome, or Dubin-Johnson syndrome, which are more severe forms of inherited hyperbilirubinemia. A genetic test can also be used to diagnose Gilbert's syndrome in newborns or infants with prolonged or severe jaundice, which is a sign of a more serious liver condition.
