Wilson's Disease : Symptoms And treatment

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Wilson's disease is a genetic disorder, which is fatal unless early detected and treated. It is a rare condition, where excess copper builds up in the body causing copper poisoning. Wilson's disease is quite uncommon and affects 1 in 30,000 people. It is named after Dr Samual Wilson, who first described the disorder in 1912.

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Copper is a 'trace metal,' which is found in many foods. Some number of copper intake is necessarily required to remain healthy. Normally, the body automatically gets rid of the excess copper, but a man suffering from Wilson disease is not able to plainly excrete the excess copper. This follow in gradual deposition of the excess copper in the vital organs such as the liver, brain, cornea and kidneys - and if not treated on time, can prove to be potentially fatal.

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Generally, the first part of the body to be affected by copper deposits is the liver. In about half of Wilson's disease suffering patients, the liver is the only affected organ. Too much copper in the liver cells (the hepatocytes) is harmful and leads to liver damage.

Wilson's Disease : Symptoms And treatment

Excess copper also damages the brain tissue in an area called the lenticular nucleus. Hence, Wilson's disease is also called 'Hepato-lenticular Degeneration'. If left untreated, the damage may come to be severe and finally fatal.

What is the cause of Wilson's disease?

The basic basic scantness in Wilson disease is not known. It may be connected to the body's inability to yield adequate levels of ceruloplasmin, an enzyme in the fluid part of the blood that binds to copper and is complicated in its transport and regulation. Other scientists believe that reduced yield of ceruloplasmin may be the follow of a blemish in the liver's capability to break down copper. The correlation between reduced ceruloplasmin levels and immoderate copper accumulation is not fully understood. In addition, there is also evidence of impaired excretion of copper by the biliary system.

How does one get Wilson's Disease?

Wilson's disease is quite a rare disease. It is mostly genetically related; therefore, most citizen inherit it from their parents. It is also quite inherent for the mutation to occur spontaneously. One out of 40,000 citizen inherit Wilson's disease from their parents, and 1/120,000 (one out of four Wilson's disease sufferers) get the disease from a spontaneous mutation.

What are the problems connected to Wilson's disease?

Although the genetic blemish is already present at birth, it takes years for the excess copper to build up to the toxic level where it is fatally damaging.

Symptoms of the disease typically start to make between the ages of 6 and 20, most commonly in the youthful years. However, you can also make symptoms in middle age.

The most characteristic sign of this disease is the Kayser-Fleischer ring - a rusty brown ring nearby the cornea of the eye that can be seen only through an eye exam. Other signs depend on either the damage occurs in the liver, blood, central nervous system, urinary system, or the musculoskeletal system.

1. Liver problems -

Symptoms of liver disorders often are the first to develop. The toxic follow on the liver cells can cause hepatitis (inflammation of the liver) prominent jaundice, abdominal pain and vomiting. If left untreated, damage to liver cells can cause scarring of the liver (cirrhosis). finally severe cirrhosis and liver failure make in untreated cases causing severe problems.

2. Brain problems -

As copper gets deposited in the brain, it can cause assorted symptoms:

o Physical symptoms such as an odd type of tremor in the arms, slowness of movement, strangeness with speech (dysphagia), writing problems, strangeness swallowing, a wobbly gait, headaches, seizures.

o Psychological symptoms such as depression, mood swings, bizarre and inappropriate behaviour, depression accompanied by suicidal thoughts, neurosis, or psychosis, inability to concentrate. Affected citizen may come to be very aggressive and sentimental; and may exhibit a 'change in personality.'
If Wilson's disease is left untreated, the accumulation of copper in the brain can lead to severe problems such as severe muscular weakness, stiffness in the body, and dementia.

3. Other problems -

Copper may build up in the cornea of the eye. This causes a characteristic highlight called Kayser-Fleischer rings - a brownish pigmentation of the cornea. Other features that may make contain anaemia, kidney damage, heart problems, pancreatitis (inflammation of the pancreas), menstrual problems and repeated miscarriage in women, and premature osteoporosis (thinning of the bones).
Wilson's disease is diagnosed with tests that part the number of copper in the blood, urine, and liver.

How is Wilson's disease diagnosed?

If Wilson's disease is suspected, it is diagnosed by tests such as -

o A blood test to part ceruloplasmin - a protein that binds copper in the bloodstream.

o A urine test to part the number of copper in the urine.

o An examination of the cornea may show the Kayser-Fleischer rings if they have developed.

o A biopsy of the liver

If Wilson's disease gets confirmed in a person, then brothers and sisters should also be tested to see if they have the condition. Siblings of a man with Wilson's disease have a 1/ 4 opportunity of having the condition.

Is there a cure for Wilson's Disease?

Cure for Wilson's disease involves a liver transplant, which is performed if valuable to save the person's life. The man will still have the genetic defect, and introductory damage to the nervous law will not go, but may improve.

How is Wilson's disease treated?

The goal of drug therapy in individuals with Wilson disease is to remove excess copper from the body and forestall ongoing copper accumulation and deposition. Therefore, drug therapy must be continued throughout life. The earlier treatment is started, the good the opportunity of preventing long-term permanent damage to the liver or brain.

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