Gilbert's syndrome

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Template:DiseaseDisorder infobox | }} Gilbert's syndrome, often shortened to the acronym GS, is a genetic disorder of bilirubin metabolism, found in about 5% of the population. The main symptom is elevated bilirubin (hyperbilirubinemia) leading to otherwise harmless mild jaundice. Alternative, less common names for this disorder are as follows:

Familial Benign Unconjugated Hyperbilirubinaemia
Constitutional Liver Dysfunction
Familial Non-Hemolytic-Non-Obstructive Jaundice
Icterus Intermittens Juvenilis
Low-Grade Chronic Hyperbilirubinemia
Unconjugated Benign Bilirubinemia

1 Signs and symptoms
2 Diagnosis
3 History
4 External links
5 References

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Signs and symptoms

The Gilbert's syndrome produces an elevated level of unconjugated bilirubin in the bloodstream but normally has no other effect. Rarely, mild jaundice may appear.

More controversially, some patients report experiencing unpleasant physical symptoms during episodes of high bilirubin levels. These may include persistent or meal-related fatigue, dizziness, tremors, nausea, abdominal pain, and "brain fog", with or without jaundiceTemplate:Fact. There is some evidence that Gilbert's syndrome also reduces the liver's ability to detoxify certain chemicals; it may be wise to avoid drugs that tax liver function, such as paracetamol.

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Diagnosis

While this syndrome is considered harmless, it is clinically important because it may be confused with much more dangerous liver conditions. However, these will show other indicators of liver dysfunction. Haemolysis can be excluded by a full blood count and lactate dehydrogenase levels. Liver biopsy is rarely necessary. The onset of GS is often in childhood or early adulthood.

Normal levels of total bilirubin (conjugated and unconjugated) are under 20 mmol/dl. Patients with GS show only elevated unconjugated bilirubin, while conjugated is in normal ranges and forms less that 20% of the total. Levels of bilirubin in GS patients should be between 20 mmol/dl and 80 mmol/dl. It is proven that GS patients have a 30% slower Gluconuitril transferase rate than normal.

The level of total bilirubin is often increased if the blood sample is taken whilst fasted.

Gilbert's syndrome causes a 31% slower than normal rate of glucuronidation in the Phase II detoxification pathway of the liver. The phase II detoxification pathway of the liver deals with conjugation rather than the oxidation, reduction and hydrolysis of the phase I pathway.

More severe types of gluconitril transferase disorders like GS are Criggler-Najjar syndrome (types I and II). These are much more severe and cause brain damage in infancy (type I) and teenage years (type II).

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History

Gilbert's syndrome is thought to be caused by a deficiency in the enzyme glucuronosyltransferase. It was first described by French gastroenterologist Augustin Nicolas Gilbert and co-workers in 1900.

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