What Is Gilbert’s Syndrome?
Keep reading to learn more about Gilbert’s syndrome, symptoms, causes, diagnosis, and when you should see a doctor.
Gilbert’s syndrome is a genetic condition that affects the liver’s ability to metabolize bilirubin. Bilirubin is a yellow chemical in the body. A buildup of bilirubin in the blood leads to jaundice, yellow discoloration of the skin and whites of the eyes.
Gilbert’s syndrome is more prevalent in males than females (assigned at birth) because of sex hormone differences.
Gilbert’s syndrome typically is diagnosed during adolescence or early adulthood.
Most people with Gilbert’s syndrome do not have symptoms. Doctors typically discover Gilbert’s syndrome from the results of liver function blood tests. The doctor may discover irregularities in laboratory tests that are routine or conducted for an unrelated condition. These findings prompt the doctor to investigate further.
Jaundice is the primary symptom of Gilbert’s syndrome. Intermittent exposure to triggers may cause the jaundice. Avoiding the trigger evens out the bilirubin level, and the jaundice typically disappears in a short time.
Some people may experience other symptoms, including:
The reason these symptoms occur is not clear.
Gilbert’s syndrome occurs when the liver is unable to convert bilirubin to its water-soluble form. A liver enzyme regulates the chemical reaction responsible for this conversion.
The body releases bilirubin when old red blood cells are broken down. Bilirubin exists first in its unconjugated, or fat-soluble, form. The body does not easily excrete this form.
The liver contains an enzyme that helps to convert unconjugated bilirubin to a conjugated form. Conjugated bilirubin is water-soluble and is excreted in the urine or feces.
People with Gilbert’s syndrome have an irregularity or mutation in the gene responsible for producing this enzyme. This mutated gene leads to the production of an unusually low amount of the enzyme. As a result, the enzyme may not function at optimal capacity in converting the unconjugated bilirubin.
The level of unconjugated bilirubin rises until it reaches a critical concentration. The excess deposits in the skin and eyes. Because of this, you may notice yellowing of the skin and whites of the eyes.
Symptoms occur in some individuals when a trigger combines with a genetic predisposition to the disease.
Triggers for Gilbert’s syndrome can be either internal or environmental factors. These factors can cause the level of unconjugated bilirubin in the blood to rise.
Jaundice is one of the main symptoms that individuals with Gilbert’s syndrome report to their doctor. However, some people may live for years without symptoms.
Symptoms may occur at intervals because of periodic exposure to triggers, including:
- prolonged fasting
- simultaneous illness
- physical and mental stress
- medications that cause red cell breakdown
If you notice yellow discoloration of your eyes and skin after experiencing these triggers, contact your doctor.
Doctors typically diagnose Gilbert’s syndrome after excluding other possible causes of jaundice. Other medical conditions that can cause elevated blood levels of unconjugated bilirubin include:
- acute and chronic liver diseases
- autoimmune disorders
- hemolytic diseases
Diagnosis starts with a thorough clinical history and physical examination. Your doctor will ask questions to identify possible risk factors and causes of high blood bilirubin levels.
To help with a diagnosis and eliminate other possible causes, your doctor may request the following:
- complete blood count
- liver function test
- imaging test, such as liver ultrasound
- hepatitis serology tests
Gilbert’s syndrome is similar to some liver diseases, so your doctor may conduct a liver biopsy. A liver biopsy rules out other causes of liver disease.
The standard for Gilbert’s syndrome diagnosis is genetic testing. Genetic testing reveals any irregularity in the gene responsible for producing the liver converting enzyme.
People with Gilbert’s syndrome do not require treatment. Avoiding specific triggers may reduce your risk of developing symptoms.
Your doctor may recommend lifestyle changes such as sleeping regularly to reduce stress. Also, your doctor may prescribe medications to treat any underlying infections.
Learn more about the signs and symptoms of liver problems.
You should see a doctor if you notice yellow discoloration of your eyes and skin. Even if the jaundice appears briefly, you should contact your doctor.
Periodic exposure to triggers may cause the symptoms to recur.
Nonspecific symptoms, such as chronic weight loss and abdominal swelling with pain, may indicate liver damage. Contact your doctor if you experience these symptoms. Early diagnosis and clinical care are necessary to prevent progression of liver disease.
Gilbert’s syndrome is a genetic condition in which the liver has a reduced capacity to metabolize bilirubin. This may lead to short episodes of jaundice, although some people experience no symptoms.
Stress, dehydration, and some medications are common triggers.
Doctors diagnose Gilbert’s syndrome using genetic tests, which can reveal irregularity in the converting enzyme gene. Your doctor may conduct more tests to exclude other possible causes of elevated levels of unconjugated bilirubin.
If you notice symptoms of Gilbert’s Syndrome, contact your doctor.