Saturday, December 29, 2007

GILBERTS SYNDROME

Gilbert's Syndrome is a disease of the Liver.There is a deficiency of an enzyme in the liver, which helps conjugate (attach) bilirubin (a by-product of haemoglobin breakdown) to a transporter molecule for excretion - hence there is an excess of bilirubin in the blood. This leads to no adverse effects in the patient but it leads to abnormal blood tests.
Who gets it?
This is a very common disorder with an incidence of 3-7%. However, because most people have no symptoms (asymptomatic) and it is usually picked up on a laboratory test - most people do not know they have it. It is more common in males than females.
Predisposing Factors
Gilbert's syndrome is a familial disorder, with 5-15% of patients having a family history of jaundice. Not all patients with the genetic defect in the enzyme become clinically jaundiced, however,the patient can become jaundiced during a mild illness.
Progression
The condition is usually diagnosed on a lab test by chance. Alternatively, patients may develop mild jaundice, especially during periods of fasting or mild illness.
Probable Outcomes
It is a completely benign (harmless) condition with no morbidity or increased risk of mortality. Patients naturally have a normal life expectancy.
How is it diagnosed?
Liver function tests - elevated bilirubin; otherwise normal.
Full blood count with peripheral smear, haptoglobin and reticulocyte count - there will be no evidence of red blood cell breakdown - another cause of high unconjugated bilirubin.

How is it treated?
No treatment required.

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