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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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Evaluating elevated liver chemistry test results - Tips from Other Journals
From American Family Physician, 3/1/03 by Richard Sadovsky

The widespread frequency of serum blood chemistry analyses in medicine requires an appropriate guideline for evaluating abnormal test results. Guidelines have been developed by the Clinical Practice Committee of the American Gastroenterological Association to interpret results and follow patients with abnormal liver chemistry test results.

Because normal values for serum biochemical tests are defined by the mean of the distribution plus or minus two standard deviations among a healthy population, 2.5 percent of healthy persons will have abnormal test elevations. In addition, because a normal value does not exclude the possibility of hepatic disease, test results must be interpreted in the context of the individual patient, and a detailed history, physical examination, and medication review are required. Important factors in this evaluation include risk factors for liver disease, medications associated with liver chemistry abnormalities, comorbid conditions, alcohol consumption, and other evidence of liver disease. This information base may appropriately direct the examination toward establishing specific diagnoses. When no clues exist or a diagnosis cannot be confirmed, an algorithm for evaluation of liver test abnormalities can be useful.

Elevated serum aminotransferase levels indicate the need to test for common hepatic diseases with noninvasive testing. If these results are negative, further testing should be based on the clinical situation. Clinical follow-up and serial serum liver chemistry testing is important. If aminotransferase elevations are persistent or marked, or if there is evidence of liver disease, a more complete diagnostic effort is required, which may include radiologic testing and liver biopsy.

Hyperbilirubinemia can be caused by hepatocellular, cholestatic, or metabolic diseases and requires further evaluation. Initial evaluation should identify whether hyperbilirubinemia is conjugated (direct) or unconjugated (indirect). Mild indirect hyperbilirubinemia in an asymptomatic patient may indicate Gilbert's syndrome, hemolysis, or a medication adverse effect. Conjugated hyperbilirubinemia in the presence of an elevated alkaline phosphatase level warrants evaluation for biliary obstruction with ultrasonography.

An elevated serum alkaline phosphatase level in the presence of normal aminotransferase levels warrants testing of g-glutamyltransferase or 5-nucleotidase testing. If these results are negative, some other etiology should be sought for the elevated serum alkaline phosphatase level outside of the hepatobiliary tract. If these results are positive, further testing is necessary to look for biliary obstruction, medication adverse effects, or primary biliary cirrhosis.

The authors conclude that mild liver abnormalities found in patients who appear to be healthy can be followed up closely if initial testing for common liver disease is negative. Further evaluation is essential in patients who have significant symptoms, chronic or serious liver disease, and marked laboratory abnormalities.

COPYRIGHT 2003 American Academy of Family Physicians
COPYRIGHT 2003 Gale Group

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