Wilson disease causes the body to retain copper. The liver of a
person who has Wilson disease does not release copper into bile
as it should. Bile is a liquid produced by the liver that helps
with digestion. As the intestines absorb copper from food, the
copper builds up in the liver and injures liver tissue.
Eventually, the damage causes the liver to release the copper
directly into the bloodstream, which carries the copper
throughout the body. The copper buildup leads to damage in the
kidneys, brain, and eyes. If not treated, Wilson disease can
cause severe brain damage, liver failure, and death.
Wilson disease is hereditary. Symptoms usually appear between
the ages of 6 and 20 years, but can begin as late as age 40. The
most characteristic sign is the Kayser Fleischer ring a rusty
brown ring around the cornea of the eye that can be seen only
through an eye exam. Other signs depend on whether the damage
occurs in the liver, blood, central nervous system, urinary
system, or musculoskeletal system. Many signs can be detected
only by a doctor, like swelling of the liver and spleen; fluid
buildup in the lining of the abdomen; anemia; low platelet and
white blood cell count in the blood; high levels of amino acids,
protein, uric acid, and carbohydrates in urine; and softening of
the bones. Some symptoms are more obvious, like jaundice, which
appears as yellowing of the eyes and skin; vomiting blood;
speech and language problems; tremors in the arms and hands; and
Wilson disease is diagnosed through tests that
measure the amount of copper in the blood, urine, and liver. An
eye exam would detect the Kayser-Fleischer ring.
The disease is treated with lifelong use of D-penicillamine
or trientine hydrochloride, drugs that help remove copper from
tissue, or zinc acetate, which stops the intestines from
absorbing copper and promotes copper excretion. Patients will
also need to take vitamin B6 and follow a low-copper diet, which
means avoiding mushrooms, nuts, chocolate, dried fruit, liver,
disease requires lifelong treatment. If the disorder is detected
early and treated correctly, a person with Wilson disease can
enjoy completely normal health.
Signs and Symptoms
usually appear around the ages of 10 to 21 years, but sometimes
not until the age of 30, and in rare instances at age 50 and
even beyond. Presentation before 5 years of age is extremely
rare, despite the biochemical defect being present at birth.
The age of
presentation seems to correlate with the organ system involved.
About half (40–50%) of patients first present with hepatic
symptoms and half (40–50%) with neurologic symptoms. The average
age for hepatic symptoms is 10–14 years, compared with 19–22
years for neurologic symptoms. Patients rarely present after age
features are liver and neuropsychiatric problems. Chronic active
hepatitis, culminating in cirrhosis is the most common hepatic
presentation, but some patients present with fulminant liver
failure (which is characterised by remarkably low alkaline
phosphatase and often high bilirubin levels compared to similar
disease states) and a surprisingly rare incidence of
hepatocellular carcinoma. Neuropsychiatric phenomena are early
dementia, mood disorders or psychosis and signs of asterixis (a
flapping tremor of the hands) and parkinsonism (including
ataxia, dyskinesia, and rigidity).
features are renal (renal tubular acidosis, kidney stones),
ophthalmic (Kayser-Fleischer rings, sunflower cataracts),
cardiac (cardiomyopathy, cardiac arrhythmias) and dermal (hidradenitis
suppurativa). Hemolysis (anemia due to destruction of red blood
cells) is usually present only in severe cases.
disease is a genetic disorder that is thought to affect one in
50,000 to 100,000 people worldwide. The disorder is due to
abnormal changes (mutations) in a gene that is inherited as an
autosomal recessive trait. The disease gene responsible for
Wilson disease, known as the ATP7B gene, is located on the long
arm (q) of chromosome 13 (13q14.3). The protein regulated by
this gene plays a role in the transport of copper
transmitted disorders may be fully expressed in individuals who
inherit two copies of the disease gene (homozygotes), one from
the mother and one from the father. Brothers or sisters of those
diagnosed with Wilson disease have a one in four chance of
inheriting two copies of the disease gene and thus developing
the disease. Those who inherit a single copy of the disease gene
(heterozygotes) are carriers of the disease trait and may
transmit a single copy of the disease gene to their children. It
is estimated that one in 90 to 100 individuals is a carrier for
Wilson disease. Genetic testing for Wilson disease is not yet
possible. However, in families with known, mutations of the
gene, haplotype analysis may be useful in determining carrier
underlying defect in Wilson disease is not known. It may be
related to the body's inability to produce sufficient levels of
ceruloplasmin, an enzyme in the fluid portion of the blood that
binds to copper and is involved in its transport and regulation.
Other scientists theorize that reduced production of
ceruloplasmin may be the result of a defect in the liver's
ability to metabolize or break down copper. The relationship
between reduced ceruloplasmin levels and excessive copper
accumulation is not understood. In addition, there is some
evidence of impaired excretion of copper by the biliary system.
The diagnosis of Wilson disease may involve one
or more of the following laboratory tests, findings, or
low serum ceruloplasmin levels. (However, ceruloplasmin
levels may be normal in up to 10 percent of individuals with
urinary copper excretion test with findings of greater than
Confirmation of the presence of Kayser-Fleischer rings.
These are golden or greenish-brown rings around the corneas
of the eyes. In individuals with brown eyes, a special
examination of the eyes known as a slit lamp examination may
be necessary to confirm the presence of these rings. They
are present in most individuals with Wilson disease and are
closely associated with neurologic and psychiatric symptoms
copper levels of less than 80µg/dl.
Demonstration of increased levels of copper in the liver of
greater than 250µg/g dry weight. Tissue samples for testing
are obtained through a surgical biopsy of the liver.
Some patients who have Kayser-Fleischer rings may
have normal levels of serum ceruloplasmin. A liver biopsy may be
required to confirm the diagnosis of Wilson disease in these
diagnosis is critical since liver damage may occur before the
onset of symptoms. Family members of those with a confirmed
diagnosis of Wilson disease also require testing and screening
for the disease, even if they do not have symptoms. Screening
tests should include the evaluation of serum ceruloplasmin
levels and urinary copper output.
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