Equipping People To Make Sense Of What They Are Told
Wilson's Disease - a rare inherited disorder that affects about 1 in 30,000 people.
It is named after Dr Samual Wilson who first described the condition in 1912.
The genetic fault in Wilson's disease, means the body is not able to get rid of excess
copper and over time copper levels build up in the body, mostly in:
The liver.
The brain.
The cornea.
The kidneys.
Excess copper in the liver cells becomes harmful and leads to liver damage. Damage
to brain tissue mainly occurs in an area called the lenticular nucleus. Hence, Wilson's
disease is also called 'Hepatolenticular Degeneration'.
If left untreated, the damage becomes severe and eventually fatal.
What causes Wilson's disease?
Usually liver cells pass out excess copper into the bile. But, if this process does
not work copper levels build up in liver cells. When the copper storage capacity
of the liver cells is exceeded, copper spills over into the bloodstream and deposits
in other parts of the body, mainly the brain.
How is Wilson's disease inherited?
In order to develop Wilson's disease a person needs to inherit two abnormal ATP7B
genes, one from the mother and one from the father.
Carriers do not have the disorder as they have one normal gene which is enough to
control the function of copper in the body. However, carriers can pass the abnormal
gene on to their children.
If two people who carry the abnormal gene have a child, there is a:
1 in 4 chance that the child will have Wilson's disease by inheriting the abnormal
ATP7B gene from both parents)
2 in 4 chance that the child will not have Wilson's disease, but will be a carrier
by inheriting the abnormal ATP7B gene from one parent but the normal gene form the
other parent.
1 in 4 chance that the child will not have Wilson's disease, and will not be a carrier
by inheriting the normal gene from both parents.
Symptoms typically start to develop between the ages of 6 and 20, most commonly in
the teenage years. However, they can develop at an older age.
Liver problems often develop first. The toxic effect on the liver cells can cause
hepatitis (inflammation of the liver) which may cause jaundice, abdominal pain and
vomiting. If left untreated, damage to liver cells caused scarring of the liver (cirrhosis).
Eventually severe cirrhosis and liver failure develop in untreated cases causing
severe problems.
Brain problems - Physical symptoms develop such as an odd type of tremor in the arms,
slowness of movement, difficulty with speech, writing problems, difficulty swallowing,
an unsteady walk, headaches, seizures.
Psychological symptoms develop, such as. depression, mood swings, inability to concentrate.
Affected people may become very argumentative and emotional and may seem to have
a 'change in personality'.
The accumulation of copper in the brain can lead to severe problems such as severe
muscular weakness, severe rigidity, and dementia.
Copper may build up in the cornea of the eye. This causes a characteristic feature
called Kayser-Fleischer rings - a brownish pigmentation of the cornea.
Other problems may develop such as: anaemia, kidney damage, heart problems, pancreatitis,
menstrual problems and repeated miscarriage in women, and premature osteoporosis.
Brothers and sisters of a person with Wilson's disease have a 1 in 4 chance of also
having the condition.
The earlier treatment is started the better the chance of preventing long-term permanent
damage to the liver or brain.
Note
Foodstuffs with a high concentration of copper generally should be avoided. These
include: shellfish, nuts, chocolate, mushrooms and organ meats.
