Gilbert syndrome

Gilbert Syndrome: A Common, Harmless Liver Condition

Gilbert syndrome is a relatively mild liver condition that affects approximately 1 in 10 people in some white groups [8]. It is characterized by periods of elevated levels of bilirubin, a yellowish waste product that is formed during the breakdown of old red blood cells [4].

Causes and Symptoms

The condition is caused by a faulty gene that results in an overabundance of bilirubin in the body. People with Gilbert syndrome may experience symptoms such as jaundice, which most often appears during times of exertion, stress, and infection, or when they are ill [7]. Jaundice is a yellowish discoloration of the skin and eyes.

Key Facts

• Gilbert syndrome is a genetic condition that runs in families [3].
• It is a harmless liver condition that does not lead to serious complications [1].
• The condition is characterized by periods of elevated bilirubin levels, which can cause jaundice.
• People with Gilbert syndrome may experience symptoms such as jaundice during times of exertion, stress, and infection.

References

[1] Jul 1, 2022 — Gilbert (zheel-BAYR) syndrome is a common, harmless liver condition in which the liver doesn't properly process bilirubin. [Context #1]

[3] Gilbert's syndrome is a genetic condition that runs in families. People with the syndrome have a faulty gene, which causes the liver to have problems removing bilirubin. [Context #3]

[4] Feb 1, 2012 — Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the body. [Context #4]

[7] Oct 3, 2024 — Symptoms may include: ... In people with Gilbert syndrome, jaundice most often appears during times of exertion, stress, and infection, or when they are ill. [Context #7]

[8] Gilbert syndrome affects 1 in 10 people in some white groups. This condition occurs due to an abnormal gene, which is passed from parents to their children. [Context #8]

Gilbert syndrome is a relatively common liver disorder that affects approximately 1 in 3 people worldwide. The most frequent sign of Gilbert syndrome is an occasional yellowish tinge of the skin and the whites of the eyes as a result of jaundice, which is caused by the build-up of bilirubin in the blood [1]. This condition typically has no obvious symptoms, other than yellowing of the skin or eyes (jaundice) [3].

Jaundice may be less obvious if you have brown or black skin, but you may notice the white part of your eyes taking on a yellowish hue. In many individuals, jaundice is only evident when one of these triggers raises the bilirubin levels [4]. Some affected individuals have reported vague, unspecific symptoms including fatigue, weakness and gastrointestinal symptoms such as nausea, abdominal discomfort, and diarrhea [4].

People with Gilbert syndrome may also experience dark urine due to the high levels of bilirubin in their blood. Abdominal pain is another symptom that suggests Gilbert syndrome, along with a number of other liver conditions [7]. However, it's essential to note that approximately 1 in 3 people with Gilbert's syndrome don't have symptoms at all and only learn they have the disease after getting blood tests for a different problem [8].

In some cases, jaundice may be the most common symptom, which is a yellow color to your eyes or skin that comes and goes by itself. Gilbert’s syndrome is usually considered harmless, it does not cause cirrhosis or serious liver damage. Most people will not need any treatment [15].

Gilbert syndrome is a genetic disorder that affects the liver's ability to break down bilirubin, a yellow pigment in the blood. Diagnostic tests for Gilbert syndrome are used to confirm the presence of this condition.

Common diagnostic tests:

• Blood counts (CBC) [10]
• Liver function test [1][5]
• Unconjugated bilirubin test [9][10]
• Liver aminotransferases test [10]
• Gamma-glutamyl transpeptidase test [10]
• Lactate dehydrogenase test [10]

Other diagnostic tests:

• Genetic testing is not usually necessary for diagnosis, but can be used to confirm the presence of the genetic mutation that causes Gilbert syndrome [1][8].
• Liver biopsy may be performed in some cases to rule out other liver conditions [7].
• Urine tests and medical history are also used as part of the diagnostic process [7].

Non-invasive diagnostic means:

• Rifampicin test [6]
• Caloric restriction test [6]

These non-invasive tests can help diagnose Gilbert syndrome without the need for a liver biopsy, which is considered hazardous.

Note: The diagnosis of Gilbert syndrome is generally based on a combination of clinical evaluation and laboratory tests. A thorough medical investigation is necessary to confirm the presence of this condition.

Gilbert Syndrome and Drug Treatment

Gilbert syndrome, a mild liver disorder, does not require specific treatment. However, it can increase the risk of toxicity from certain medications.

• No treatment necessary: According to search result [3], Gilbert syndrome requires no treatment, and individuals with this condition do not need medical intervention.
• Increased risk of side effects: Some medications, such as irinotecan (used in cancer chemotherapy), may have increased toxicity in people with Gilbert syndrome. This is mentioned in search results [4] and [7].
• Phenobarbital therapy: In some cases, phenobarbital therapy has been shown to be effective in reducing plasma bilirubin levels in patients with Crigler-Najjar syndrome type 2 (search result [6]). However, this is not a standard treatment for Gilbert syndrome.
• No specific treatment required: Search results [7] and [8] confirm that no specific treatment is required for people with Gilbert syndrome.

It's essential to note that individuals with Gilbert syndrome should consult their healthcare provider before taking any medications, as they may be at increased risk of side effects.

References: [3], [4], [6], [7], [8]

Gilbert syndrome has a broad differential diagnosis, meaning that it can be confused with other conditions that also cause unconjugated hyperbilirubinemia.

Other Conditions to Consider

• Crigler-Najjar syndromes: These are rare genetic disorders that affect the enzyme responsible for converting bilirubin into its water-soluble form. Like Gilbert syndrome, they can cause high levels of unconjugated bilirubin in the blood.
• Rotor syndrome: This is a rare genetic disorder that affects the liver's ability to remove bilirubin from the bloodstream. It can also cause high levels of unconjugated bilirubin.
• Dubin-Johnson syndrome: This is another rare genetic disorder that affects the liver's ability to remove bilirubin and other substances from the bloodstream.
• Alcoholic/non-alcoholic fatty liver disease: These conditions can cause inflammation in the liver, leading to high levels of unconjugated bilirubin.
• Hepatotropic hepatitis: This refers to inflammation of the liver caused by a viral infection. It can also lead to high levels of unconjugated bilirubin.
• Cirrhosis: This is a condition where the liver becomes scarred and damaged, leading to impaired function and potentially high levels of unconjugated bilirubin.
• Hepato-biliary malignancy: This refers to cancer of the liver or bile ducts. It can also cause high levels of unconjugated bilirubin.

Key Points

• Gilbert syndrome is a mild genetic disorder that affects the body's ability to process bilirubin.
• Other conditions, such as Crigler-Najjar syndromes, Rotor syndrome, Dubin-Johnson syndrome, and liver diseases, can also cause high levels of unconjugated bilirubin in the blood.
• A careful clinical assessment, targeted laboratory evaluation, and exclusion of other differential diagnoses are necessary to diagnose Gilbert syndrome accurately.

References:

[3] - The combination of standard blood counts and liver enzymes with an elevated bilirubin level is an indicator of Gilbert syndrome. No other testing usually is needed, although genetic testing can confirm the diagnosis. [9] - Gilbert syndrome has a broad differential diagnosis because numerous causes of unconjugated hyperbilirubinemia must be considered. In particular... [10] - Diagnoses can include conditions of disordered bilirubin metabolism (Gilbert's, Crigler-Najjar, Rotor, or Dubin-Johnson syndromes) or an acquired disease, including alcoholic/non-alcoholic fatty liver disease, hepatotropic hepatitis, cirrhosis, or hepato-biliary malignancy. [14] - Careful clinical assessment, targeted laboratory evaluation, and exclusion of other differential diagnoses associated with unconjugated hyperbilirubinemia, including other acute and chronic liver diseases, should be performed before diagnosing Gilbert syndrome.