Wilsons Disease Essay, Research Paper http://www.wilsonsdisease.org/ Wilson’s Disease is a genetic disorder that is fatal unless detected and treated before serious illness develops from copper
Wilsons Disease Essay, Research Paper
Wilson’s Disease is a genetic disorder that is fatal unless detected and treated before serious illness develops from copper
poisoning. Wilson’s Disease affects one in thirty thousand people world wide. The genetic defect causes excessive copper
accumulation. Small amounts of copper are essential as vitamins. Copper is present in most foods, and most people get
much more than they need. Healthy people excrete copper they don’t need, but Wilson’s Disease patients cannot.
Copper begins to accumulate immediately after birth. Excess copper attacks the liver and brain resulting in hepatitis,
psychiatric, or neurologic symptoms. The symptoms usually appear in late adolescence. Patients may have jaundice,
abdominal swelling, vomiting of blood and abdominal pain. They may have tremors, difficulty walking, talking and
swallowing. They may develop all degrees of mental illness including homicidal or suicidal behavior, depression and
aggression. Women may have menstrual irregularities, absent periods, infertility, or multiple miscarriages. No matter how
the disease begins, it is always fatal, if is not diagnosed and treated.
The first part of the body that copper affects is the liver. In about half of Wilson’s Disease patients, the liver is the only
affected organ. The physical changes in the liver are only visible under the microscope. When hepatitis develops, patients
are often thought to have infectious hepatitis or infectious mononucleosis when they actually have Wilson’s Disease
hepatitis. Any unexplained abnormal liver test should trigger thought about Wilson’s Disease.
How is Wilson’s Disease Diagnosed?
The diagnosis of Wilson’s Disease is made by relatively simple tests which almost always make the diagnosis. The tests
can diagnose the disease in both symptomatic patients and people who show not signs of the disease. It is important to
diagnose Wilson’s Disease as early as possible, since severe liver damage can occur before there are any signs of the
disease. Individuals with Wilson’s Disease may falsely appear in excellent health.
Blood, ceruloplasmin, urine copper, eye test for Kayser-Fleischer rings, and liver biopsies are used to make the diagnosis.
Is Wilson’s Disease an Inherited Disorder?
Wilson’s Disease is transmitted as an autosomal recessive disease, which means it is not sex-linked (it occurs equally in
men and women). In order to inherit it, both of ones parents must carry a gene which each passes to the affected child.
Two abnormal genes are required to have the disease. The responsible gene is located at a precisely known site on
chromosome 13. The gene is call ATP7B.
Many cases of Wilson’s Disease occur due to spontaneous mutations in the gene. A significant number of others are
simply transmitted from generation to generation. Most patients have no family history of Wilson’s Disease.
People with only one abnormal gene are called carriers. They do not become ill and should not be treated.
More than thirty different mutations have been identified thus far. Therefore, it has been difficult to devise a simple genetic
screening test for the disease. However, in a particular family, if the precise mutation is identified, a genetic diagnosis is
possible. This may help in finding symptom-free relatives so that they may be treated before they become ill or
handicapped. Someday a genetic test may help in prenatal diagnosis.
How is Wilson’s Disease Being Treated?
Wilson’s Disease is a very treatable condition. With proper therapy, disease progress can be halted and often times
symptoms can be improved. Treatment is aimed at removing excess accumulated copper and preventing its
reaccumulation. Therapy must therefore be lifelong.
Patients may become progressively sicker from day to day so immediate treatment can be critical. Delay of even a few
days may cause irreversible worsening.
The newest FDA-approved drug is zinc acetate (Galzin). Zinc acts by blocking the absorption of copper in the intestinal
tract. This action both depletes accumulated copper and prevents it reaccumulation. Zinc’s effectiveness has been shown by
15 years of considerable experience overseas. A major advantage of zinc therapy is its lack of side effects. Other drugs
approved for use in Wilson’s Disease include pencillamine (Cuprimine, Depen) and trientine (Syprine). Both of these
drugs act by chelation or binding of copper, causing its increased urinary excretion.
Tetrathiomolybdate is under investigation for initial treatment of Wilson’s Disease in the hope that it will not cause
neurological worsening, as may occur with pencillamine. Although its side effects are not clearly established, indications
are that it is quite safe.
Patients with severe hepatitis may require liver transplant. Patients being investigated or treated for Wilson’s Disease
should be cared for by specialists in Wilson’s Disease or in consultation with such specialists by their primary physicians.
Stopping treatment completely will result in death, sometimes in three months. Decreasing dosage can result in
unnecessary disease progression.
Wilson?s disease is a genetic disorder that results in excessive accumulation of copper in many
parts of the body. If left untreated, this condition can be fatal, but fortunately it is readily treatable.
Dietary changes that may be helpful: Most foods contain at least some copper, so it is not
possible to avoid the metal completely. Foods high in copper, such as organ meats and oysters,
should be eliminated from the diet. Some foods are relatively high in copper but are quite nutritious
(e.g., nuts and legumes)?these foods should be eaten in moderation by people with Wilson?s
disease. Grains contain significant amounts of copper but are important components of a healthful
diet, and dietary restriction may be neither wise or necessary, particularly if zinc is supplemented.
Nutritional supplements that may be helpful: Zinc is known for its ability to reduce copper
absorption and has been used successfully in patients with Wilson?s disease,1 with some trials
lasting up to seven years.2 Researchers have called zinc a ?remarkably effective and nontoxic
therapy for Wilson?s disease.?3
Zinc has also been used to keep normal copper levels from rising in people with Wilson?s disease
who had been successfully treated with prescription drugs.4 Zinc in the amount of 50 mg taken
three times per day have been used for this type of maintenance therapy,5 although some
researchers use the same level successfully with people who have untreated Wilson?s disease.6
Zinc is so effective in lessening the body?s burden of copper that a copper deficiency was reported
in someone with Wilson?s disease who took too much (480 mg) zinc.7 Nonetheless, zinc does not
help everyone with Wilson?s disease. Sometimes increased copper in the liver has been reported
after zinc supplementation;8 however, leading researchers believe this increase is both temporary
and not harmful.9
Are there any side effects or interactions? (Refer to the individual supplement for complete
information.) Zinc intake in excess of 300 mg per day may impair immune function. Although the
preliminary research is contradictory, patients with Alzheimer?s disease should avoid zinc
supplementation until further studies clarify the role of zinc in this disease.
What is Wilsons Disease?
Wilsons disease is a relatively rare hereditary condition in which excessive amounts of
copper accumulate in the body. Small amounts of copper are essential to good health, but the
inability of the body and, especially, the liver to release excessive amounts results in
accumulation of copper in several organs. This overload of copper has a toxic effect on these
organs. The liver is the first organ to store copper and when its storage capacity is exhausted,
the copper continues to accumulate in the brain and the cornea of the eye. Left untreated,
Wilsons disease can be fatal.
What Causes the Disease?
Wilsons disease is hereditary. In order to have the disease, a patient must have inherited two
defective genes, one from each parent; siblings of a patient have a 25% chance of being
affected. The liver begins to retain copper at birth and it may take 3 to 30 years before
symptoms manifest themselves.
What are the Symptoms of the Disease?
Wilsons disease is sometimes difficult to diagnose, and can be easily misdiagnosed. The
symptoms of copper accumulation in the liver can resemble hepatitis, e.g., loss of appetite,
nausea, fatigue, dark urine, clay-coloured stools, etc. Copper accumulation in the brain can
present itself in two ways: (1) as psychiatric disorders such as depression, maniacal
tendencies or suicidal impulses. During adolescence, anxiety or depression can be
misinterpreted as normal adjustment difficulties, rather than indications of a potentially fatal
disease. (2) Physical symptoms of copper accumulation in the brain can manifest as slurred
speech, failing voice, drooling, tremors or difficulty in swallowing. Muscular control can
deteriorate until the patient is bedridden.
How is the Disease Diagnosed?
The presence of both psychiatric and physical symptoms makes Wilsons disease difficult to
diagnose. Individuals between three and 45 years of age who show signs of any of the
previously mentioned symptoms should be screened for Wilson disease. Confirmation of the
diagnosis can be made with a simple blood test measuring serum copper and ceruloplasmin, a
blood protein that transports copper. Another diagnostic test for this disease is the presence of
Kayser-Fleischer rings which show an accumulation of copper around the cornea that is
sometimes visible to the naked eye.
The gene responsible for Wilsons disease was recently discovered. This means that a simple,
conclusive test is now available to diagnose affected siblings of patients before they show
disease symptoms. Individuals who are found to have the defective gene can be treated before
problems arise. The gene for Wilson disease can be defective in many different ways. Some,
but not all, of these defects can be identified. Direct testing for these defects can aid in
confirming or eliminating the diagnosis in patients with symptoms of the disease. Within the
next few years, most of the specific gene defects should be identified.
How is the Disease Treated?
Once detected, effective treatment is available even in advanced stages. The toxic
concentration of copper in the body must be removed and its reaccumulation prevented. This
is done with the use of a decoppering agent such as penicillamine or zinc.
Can it be Cured Completely?
The treatment does not correct the fundamental flaw in liver function. Therefore, to prevent
reaccumulation of copper in the body, treatment must be continued throughout the patient’s
What Precautions Should be Taken Against this Disease?
Since the gene transmitting the disease is recessively inherited, siblings of a patient have a
25% chance of being affected. Therefore, when a new case is diagnosed, all siblings should be
screened for the disease.
What Else Can We Learn About it?
Now that the defective gene has been identified, more research is needed to identify all of the
changes in the gene and to develop a simple test that will put that discovery into practical
For more information on this topic, or any other liver disease, please contact the Canadian
Liver Foundation at (416) 964-1953 or 1-800-563-5483, or fax (416) 964-0024.
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