Gilbert's Syndrome is a relatively common and benign
congenital (probably hereditary) liver disorder, found more frequently
in males. It is characterized by a mild, fluctuating increase in serum
bilirubin, a yellow pigment excreted by the liver into bile.
It
is estimated that from 3 to 7 percent of the adult population has Gilbert's
Syndrome.
Bilirubin
is produced from hemoglobin (the red pigment of red blood cells) in
the bone marrow, the spleen and elsewhere and is carried to the liver
in the blood. It undergoes chemical changes in the liver and then is
excreted into bile and passes out of the body after further chemical
changes in the intestines. Small amounts of bilirubin are normally present
in the blood. However, when there is excessive breakdown of red blood
cells or interference with bile excretion, the amount is increased and
may produce jaundice.
The
onset of Gilbert's Syndrome usually occurs in the teens or early adulthood
(20s and 30s); there are rarely significant symptoms, but occasionally
mild jaundice may appear, and the white of the eye becomes yellow. It
may show up as an incidental laboratory finding, and the serum bilirubin
increases with fasting or an intercurrent illness such as influenza.
Except
for the elevated serum bilirubin level, conventional liver function
tests are normal and so is cholangiography (x-ray of the bile ducts).
Many
patients are initially misdiagnosed or transformed into "hepatic
neurotics" with a variety of nonspecific symptoms. The major goal
of the clinician is to distinguish this benign disorder from more serious
causes of liver dysfunction. The diagnosis of Gilbert's Syndrome is
established primarily by documenting the persistence of an increased
serum bilirubin when other liver function tests are repeatedly normal.
A liver biopsy may occasionally be necessary to rule out other abnormalities.
Other diagnostic procedures that may be useful include:
(1)
the effect of reduced caloric intake on plasma bilirubin concentration
(2) intravenous administration of nicotinic acid which appears to increase
bilirubin formation in the spleen, or
(3) administration of radioactive bilirubin to estimate the percentage
of the dose remaining in plasma after four hours.
Gilbert's Syndrome does not require treatment and will not interfere
with a normal lifestyle.

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