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Gilbert's syndrome

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 (hyperbilirubinamia) leading to otherwise harmless mild jaundice. Alternative, less common names for this disorder are as follows: more...

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

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 fatigue and "brain fog" during episodes of high bilirubin levels. 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.

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 Type I and Criggler-Najjar Syndrome Type II. Patients with type I disorder show no bilirubin detoxification and suffer from brain damage due to exessive bilirubin levels(both conjugated and unconjugated bilirubin are elevated). Infants with this disorder live not more than one year. There are cases of Criggler-Najjar Type I patients living twenty or thirty years.

It is arguable that GS is benign, due to many reported symptoms by GS patients.

Controversial Dietary Recommendations

No treatment is necessary for most individuals and Gilbert's syndrome is clinically defined as being without symptoms except for periodic mild jaundice.

Read more at Wikipedia.org


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