hepatolenticular degeneration (commonly referred to as Wils

How is this Disease Diagnosed?

There are several main methods of diagnosing Wilson's disease. Wilson's disease can be diagnosed with tests that check levels of copper in the bloodstream.Doctors may also require a liver tissue sample to diagnose the disease. Lastly, a person can have genetic testing that will tell them if they have Wilson's disease.

What is the History of Wilson's Disease?

What is Wilson's Disease?

Hepatolenticular degeneration, or Wilson's Disease, is an inherited disorder; this disease does not allow the body to get rid of excess copper. This disease occurs in women and men at the same rate.

What Treatments Are Available?

What Prevents the Body from Eliminating Excess Copper?

In a person without Wilson's disease, the liver releases excess copper as bile.

In a person with Wilson's Disease, the excess copper builds up in the liver and brain and is released directly into the bloodstream; this is dangerous for your kidneys, brain, and eyes.

hepatolenticular degeneration

This disease received its name from the British neurologist Dr Samuel Alexander Kinnier Wilson, who first discovered the condition based on the link between copper accumulation in both the liver and the brain in 1948, that resulted in this disease.

The first effective method of treatment was discovered by New Zealand neurologist Dr Derek Denny-Brown, who actualized the first injection of drugs to eliminate excess copper.

The genetic connection of Wilson's disease and relation to chromosome ATP7B mutations was discovered in the 1980s and 1990s by several American research groups.

There are treatments available for this disease, although they cannot cure a person of the disease.

One form of treatment is drugs; a patient is given drugs to eliminate extra copper from the body. People with this disease also need to take medicine and follow a low-copper diet for the rest of their lives.This means that those with Wilson's disease cannot eat shellfish or liver, as these foods contain high levels of copper.People with Wilson's disease will also need to avoid chocolate, mushrooms, and nuts.

Additionally, Wilson's disease patients should have their drinking water checked for copper content and don't take multivitamins that contain copper

Prognosis

If this disease is not detected early enough, the results can be fatal, or a person can develop brain damage or liver failure.

However, if the disease is diagnosed early enough, an individual will have to be on drugs for life that eliminate excess copper. Zinc is very commonly used.

In rare cases where there is severe liver disease, a liver transplant may be needed.

This disease is not generally fatal, and people with it can live a normal life with an average lifespan.

What Symptoms Are Present in Someone with Wilson's Disease?

For a person with this disease, symptoms do not generally present themselves at least until around 5 years of age, and can emerge up until someone is 35. However, the disease is present from birth.

Wilson's Disease first attacks the liver or the central nervous system. In other cases, the disease attacks both. The most common sign that Wilson's disease is present is a rusty brown ring around the cornea of the eye.

However, some later symptoms can be even more serious. Liver disease, appearing in late childhood or early adolescence is the first sign of the disease. In other cases, the first symptoms are neurological and commonly include slurred speech , difficulty swallowing , and drooling. Other symptoms may include tremor of the head, arms, or legs; impaired muscle tone, and sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements,and slowness of movements . People with this disease may also experience clumsiness and loss of fine motor skills. One-third of individuals will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis.

The copper ring around the eye, called a Kayser-Fleisher ring, often is a sign that a person has Wilson's disease.

(commonly referred to as Wilson's disease or copper storage disease)

Which Chromosome is Affected by Wilson's Disease?

As we know, a human has 23 pairs of chromosomes, and of these, the gene responsible for Wilson's disease is chromosome 13. The gene is called ATP7B, and is responsible for genetic information required to make a copper transport protein that is imperative for excess copper being released from the liver as bile. The mutation in the gene prevents the chromosome from producing an effective copper transporter.

BY STAR SLADE :)