Wilson
disease, also known as hepatolenticular degeneration, is a
rare inherited systemic disorder of copper metabolism. In
patients with this disease, copper initially accumulates
in the liver. When the liver's storage capacity is
eventually exceeded, copper is then released from the
liver and begins to collect in other organs of the body,
particularly the brain, eyes, and kidneys.
Signs and Symptoms:
Associated
symptoms may include fatigue, loss of appetite (anorexia),
weight loss, generalized weakness, fluid accumulation in the
abdomen (ascites) and abdominal swelling, or yellowish
discoloration of the skin and the eyes (jaundice).
Acute liver
failure
Hemolysis or
previous history of hemolysis
Acute/Chornic
hepatitis
Portal
hypertension
Abnormal LFTs in
neurologic or psychiatric cases
Enlargement of
the liver (hepatomegaly), spleen (splenomegaly), or both (hepatosplenomegaly)
Impaired kidney
function; the development of unusually dark skin patches
Diagnosis:
A biochemical
diagnosis is made by finding two of the following three
abnormalities:
1. Low
plasma ceruloplasmin, below 200mg/L (20mg/dL)
2. Raised urinary copper, greater than
25mmol
(155mg)/24
hrs. following penicillamine administration
3. Hepatic copper greater than 250mg/g
dry weight.
Treatment:
The initial
approach in treating Wilson disease is the removal of
excessive copper. The most common drug for this purpose is D-penicillamine
The side effects
of D-penicillamine range from minor disturbances to severe or
life-threatening complications, such as aplastic anemia,
immune complex nephritis, systemic lupus erythematosus, or
myasthenia gravis.
In some
individuals, neurologic symptoms may worsen during
penicillamine therapy.
Trientine can
also be used for patients who are intolerant of D-penicillamine.
The majority of side effects associated with penicillamine do
not recur when trientine is use, with the exception of SLE.
Liver transplant
is indicated for patients with acute liver failure.
