What is Gilbert’s Syndrome? Diagnosis & Treatment

Gilbert’s syndrome is a rare inherited disorder that affects 3-7% of the general population. It is characterized by elevated levels of bilirubin and recurrent episodes of mild jaundice (yellowing of the skin and whites of the eyes). Please continue reading to learn more about Gilbert syndrome, including what causes it, the symptoms, diagnosis, and treatment.

What causes Gilbert’s syndrome?

Gilbert’s syndrome (also called familial nonhemolytic jaundice) is a genetic liver disease that affects bilirubin metabolism. Bilirubin pigment is an orange-yellow byproduct that forms during hemolysis (when the body breaks down old red blood cells).

Affected individuals have low levels of a specific liver enzyme called bilirubin UDP glucuronosyltransferase which the body needs to properly process bilirubin and keep it at normal levels.

Because people with Gilbert syndrome have trouble properly processing bilirubin, the bilirubin remains in their body instead of being eliminated. This results in mild unconjugated hyperbilirubinemia (mildly high levels of unconjugated bilirubin). The elevated bilirubin levels lead to recurrent episodes of jaundice (yellowing of the skin, whites of the eyes, and mucous membranes).

How is it inherited?

Gilbert’s syndrome is an autosomal recessive disorder. When an inherited genetic condition has this pattern of inheritance, the abnormal gene is located on a non-sex chromosome and a person must inherit two copies of the defective gene, one from each parent, to develop the disorder.

What happens if you have Gilbert syndrome?

The elevated bilirubin level can cause symptoms of jaundice if you have Gilbert’s syndrome. However, most patients with Gilbert syndrome don’t have any symptoms at all. Others develop only mild jaundice (yellowish tinge of the skin and whites of the eyes). Sometimes this is accompanied by dark urine and clay-colored stools. Other symptoms such as fatigue, weakness, abdominal discomfort, nausea, and diarrhea have been reported in Gilbert disease patients, but they are likely related to the stress of the diagnosis and not due to the excess bilirubin itself.

The disorder is present from birth but may not be diagnosed until adolescence or young adulthood. Certain risk factors can raise bilirubin levels, such as stress, exertion, fasting, alcohol consumption, dehydration, exposure to cold temperatures, and infections.

How is Gilbert's syndrome diagnosed?

Gilbert syndrome is diagnosed when elevated levels of bilirubin are discovered on routine blood tests or test results for other illnesses such as infections. If a person’s bilirubin levels are high and they do not have hemolysis (premature breakdown of red blood cells) or structural liver damage, health care providers suspect Gilbert syndrome. A definitive diagnosis can be made with genetic testing.

In people with suspected Gilbert syndrome, doctors may order tests to rule out other liver diseases that may require treatment, such as viral hepatitis or fatty liver. They will also rule out disorders such as constitutional hepatic dysfunction (jaundice due to a problem with the liver cells), Crigler-Najjar syndrome type I and II (characterized by intense and continuous jaundice), or Rotor syndrome and Dubin-Johnson syndrome (characterized by high levels of conjugated bilirubin, the water-soluble form of bilirubin).

Does Gilbert syndrome need treatment?

Gilbert’s syndrome doesn’t need treatment. It is a mild disorder that doesn’t cause any obvious symptoms or health problems that need to be treated.

People with a Gilbert syndrome diagnosis tend to have above-normal life expectancies. Bilirubin has antioxidant effects and is protective. Therefore, affected individuals tend to have a lower incidence of ischemic heart disease and cancers such as Hodgkin lymphoma and endometrial cancer.

However, people with Gilbert syndrome are at an increased risk of developing gallstones. They also have a higher risk of severe side effects from certain drugs.

What is the best treatment for Gilbert's syndrome?

The best treatment for Gilbert’s syndrome is to manage stress and stay well hydrated. This is a mild and benign condition that does not require any specific treatment. However, as mentioned above, people with Gilbert’s syndrome are at an increased risk of side effects from certain medications that are metabolized by the liver, such as acetaminophen and irinotecan (a chemotherapy drug). If you have received a diagnosis of Gilbert syndrome, always check with your health care provider before taking any new medications.

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