From the Guidelines
Gilbert's syndrome typically causes no symptoms or only mild symptoms, with the main symptom being jaundice, a yellowing of the skin and whites of the eyes, which occurs when bilirubin levels in the blood rise 1.
Symptoms of Gilbert's Syndrome
The symptoms of Gilbert's syndrome are usually mild and may include:
- Jaundice, which is a yellowing of the skin and whites of the eyes
- Fatigue
- Weakness
- Abdominal discomfort
- Mild nausea These symptoms are often triggered by stress, illness, fasting, or strenuous exercise, and may resolve on their own when the triggering factors are addressed 1.
Diagnosis and Differentiation
To determine whether cases of elevated total bilirubin can be attributed to Gilbert syndrome, the direct bilirubin fraction should be measured, as patients with Gilbert syndrome usually have a direct bilirubin fraction of less than 20% of total bilirubin 1. It is also important to note that Gilbert's syndrome is a benign condition that does not cause liver damage or require treatment, and many people with the condition remain completely asymptomatic and only discover they have it during routine blood tests that show elevated bilirubin levels 1.
Clinical Considerations
In clinical practice, it is essential to accurately diagnose Gilbert's syndrome to avoid unnecessary diagnostic testing, incorrect assignment of causality, and drug interruption or discontinuation 1. Patients with Gilbert's syndrome should be monitored for any changes in their liver profile, and unexplained alterations should be referred to a hepatologist for further evaluation 1. Additionally, alpha-fetoprotein tumor marker testing can be performed to help rule out the possible presence of hepatocellular carcinoma (HCC) 1.
From the Research
Gilbert's Syndrome Symptoms
The symptoms of Gilbert's syndrome are not well-defined, but some studies provide insight into the condition.
- Mild hyperbilirubinemia with a high fraction of unconjugated bilirubin is a characteristic of Gilbert's syndrome 2.
- Normal values of liver enzymes and no overt signs of hemolysis are also typical of the condition 2.
- Symptoms such as nausea and abdominal pain are not consistently relieved by treatment 3.
- The condition is often asymptomatic, but may be associated with fatigue, weakness, and loss of appetite, although these symptoms are not specific to Gilbert's syndrome.
Diagnostic Considerations
Diagnosis of Gilbert's syndrome can be established with relative certainty based on clinical presentation and laboratory tests.
- A high fraction of unconjugated bilirubin in the blood is a key diagnostic feature 2.
- Phenobarbital treatment can help reduce the level of unconjugated serum bilirubin, but its diagnostic specificity is low when the differential diagnosis is hepatitis 2, 4.
- The reduced caloric intake test may not be reliable for diagnosing Gilbert's syndrome, especially when differentiating it from acute hepatitis 2.
- Liver biopsy is not mandatory for diagnosis 2.
Treatment and Management
Treatment of Gilbert's syndrome is generally not necessary, but some medications may help alleviate symptoms.
- Phenobarbital treatment can reduce the level of unconjugated serum bilirubin 2, 4, 5.
- Phetharbital, a non-hypnotic barbiturate, may be an alternative to phenobarbital, with fewer side effects 3.
- The effectiveness of these treatments in relieving symptoms such as nausea and abdominal pain is not well established 3.