Term Paper on Wilson's Disease
Wilson’s Disease (WD) is a hereditary
disease in which the body fails to perform the metabolism of copper. “It is
named after 20th-century British neurologist Samuel A.K. Wilson.” (Wilson’s
Disease) The disease is not very common and found in 1 of every 30,000
people around the world. WD is a genetic as well as metabolic disorder. “It
occurs in persons who inherit a defective gene on chromosome 13 from both
parents. Being a recessive genetic disorder, a person with only one
defective gene, commonly called a carrier, does not suffer from the
disease.” (Focus On: Wilson's Disease). In our paper I would briefly analyze
the nature, causes, diagnosis and treatment of the disease.
A Hereditary and Metabolic Disease
“Wilson’s disease is a rare autosomal recessive disorder of copper
transport, resulting in copper accumulation and toxicity to the liver and
brain… The gene for Wilson's disease (ATP7B) was mapped to chromosome 13.”
(WILSON'S DISEASE)
WD is defined as ‘a genetic disorder in which there is excessive
accumulation of copper in the liver and brain because of an inherited defect
in the biliary excretion of copper’. (Schilsky, Tavill) Wilson's disease is
a genetic (inherited) disease and occurs when there are abnormalities
(mutations) in an individual's DNA. The disease results in the ability of
body to retain copper. In normal conditions, the copper is released in to
the bile. Bile is a liquid produced by the live that helps in the digestion
of food. In case of a person suffering from Wilson’s disease, the copper
from food, instead of being released in to bile, is absorbed by the
intestines. The copper thus built up in the liver damages its tissues.
Consequently, the liver releases the copper directly into the blood, which
carries it to all parts of body. Reaching the different parts through blood
circulation, the copper harms and destroys brain, kidneys and eye of the
effected person. This ultimately causes liver failure and brain damage
leading to death. Wilson's disease is also called hepatolenticular
degeneration. It is an autosomal recessive disorder of copper metabolism
brought by disproportionate buildup of copper in the liver, eyes, nervous
system, kidneys and other parts of body. It is hereditary in nature and thus
none of its symptoms are visible before the age of 5. “Recent data suggests
the prevalence of the disorder to be about 1 in 30,000 worldwide with a
carrier frequency of about 1 in 90.” (Gastroenterology) The disease is
genetic and the built up of copper begins in the early years of life,
although, the symptoms are invisible and undetectable until as late as 6 to
40 years of age.
Symptoms
The symptoms of disease can be seen on different parts of body that are
affected. The most visible sign is the Kayser-Fleischer ring. It is a rusty
brown ring around the cornea of the eye visible only through thorough
examination of an eye. Almost 40% patients are with a history of liver
disease. Also there are neurological and psychiatric symptoms. In case of
damages caused to other organs of body, the symptoms could be observed. A
physician can examine the changes like swelling of spleen and liver, anemia,
reduction of white blood cells, high amino acid level, uric acid,
carbohydrates and protein in urine, fluid built up in abdomen, and softening
(decalcification) of bones. Other symptoms can be vomiting blood, tremors,
stiff muscles, yellowish skin and eyes texture like in jaundice etc.
(Wilson’s Disease)
Diagnosis
Like every disease the accurate diagnosis of Wilson disease is also
necessary before making any prediction. It is difficult to make a diagnosis
of the disease from the symptoms, as no other symptoms are visible except
Kayser- Fleischer rings in noncholestatic patients. The radio copper
ceruloplasmin incorporation test is also used in diagnosis. In the test,
radioactive copper is given to the patient orally and then his serum level
is measured after every 1 to 2 hours for at least two days. Blood and urine
tests are performed to measure the level of copper. (Genetic Diseases.
Wilson's Disease)
Although serum ceruloplasmin levels are reduced in 95% of patient’s but
neither ceruloplasmin nor the finding of abnormal urinary copper excretion
is specific for Wilson’s disease and therefore, additional tests are
necessary to confirm the diagnosis. (Sternleib I) The most reliable method
for the diagnosis of the disease is through copper quantitation of liver
tissue from biopsy. The family members of the affected person should also be
treated even though no symptoms have appeared. “Nothing can be done to
prevent Wilson's disease in someone who has already been born. Genetic
testing can determine whether someone has the gene for Wilson's disease.
Genetic counseling is useful for people with a family history of the
disease.” (Diseases and Conditions)
Treatment
Once affected, a patient needs a life long treatment; however, if the
disease is diagnosed and treated at an early stage, a complete recovery is
possible. D-penicillamine or trientine hydrochloride, drugs are used for
treatment of disease and are prescribed for life long use. These drugs are
meant to eradicate copper from affected tissues. Moreover, vitamin B6 and
low copper diet is taken by the patient. Treatment with chelating agents (penicillamine,
trientine, British-Anti-Lewisite) can result in complete reversal of
hepatic, neurologic and psychiatric abnormalities. (Sternlieb, Scheinberg)
The consumption of zinc is helpful as it prevents the intestine from the
absorption of copper. Since the primary cause of the disease is copper,
anti-copper agents are given to minimize the existing copper and also
prevent further buildup. Zinc salts may be considered as initial therapy for
asymptomatic patients or for those intolerant of penicillamine or trientine.
(Brewer, Johnson) “In rare cases in which there is severe liver disease, a
liver transplant may be needed.” (NINDS Wilson's Disease Information Page)
The disease is caused in areas and communities where consanguinity is
common. Particular changes are found more frequently in specific populations
or ethnic groups with different physical characteristics of living such as
genes and the surrounding environment.
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