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What you should know about Wilson's Disease
What is Wilson's Disease?
Wilson's Disease is a rare genetic disorder that is fatal unless detected
and treated before serious illness develops from copper poisoning. Wilson's
Disease affects about one in thirty thousand people worldwide.
The genetic defect causes excessive copper accumulation. Small amounts
of copper are essential for the body to maintain its lifefunctions. Copper
is present in most foods, appearing in various quantities and this depends
on the food type, location where it is grown and how the food is processed.
Most people get much more dietary copper than they need and healthy people
excrete the copper they don't need. However, Wilson's Disease patients
cannot excrete copper.
What happens to copper in Wilson's Disease?
Copper begins to accumulate immediately after birth and gradually builds
up to toxic levels within the body. Excess copper attacks the liver and
brain resulting in liver disease, psychiatric, or neurological symptoms
or any combination of these.
What are the symptoms and signs of Wilson's Disease?
The symptoms usually appear during adolescence, but
symptoms have presented as early a s 5 years and as late as 50 years.
Patients may present with a wide spectrum of symptoms.
Patients may have jaundice, abdominal swelling, vomiting of blood (a
telltale sign of oesophageal varices caused by liver damage) and abdominal
pain. They may have tremors or chorea (coordination difficulties such
as with handwriting), gait disturbances, balance disorders, stiffness
or rigidity (dystonia), difficulty walking, talking (slurring) and swallowing,
and may drool. They may develop all degrees of mental illness including
homicidal or suicidal behaviour, 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
it is not correctly diagnosed and treated.
Tell me more about the liver in Wilson's Disease?
The first part of the body that copper affects is the liver. In about
half of WD patients, the liver is the only affected organ. The physical
changes in the liver are only visible under a 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.
Tell me more about the brain in Wilson's Disease?
The excess copper also accumulates in the central nervous system. From
a neurology perspective, motor abnormalities which are not clearly and
unequivocally explained by a particular diagnosis should prompt the neurologist
to consider Wilson's Disease. Neurological abnormalities are almost always
motor and not sensory disturbances. Kayser Fleischer Rings (or Sunflower
Cataracts) in the eyes are invariably present when there are neurological
symptoms in the patient and these are normally a tell-tale sign of Wilson's
Disease.
How is Wilson's Disease Diagnosed ?
Diagnosis 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 no signs of the disease. It is very important
to diagnose Wilson's Disease as early as possible, since severe liver
damage can occur before there are symptoms 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.
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