An Overview of Wilson's Disease

Wilson's Disease is a rare inherited condition that causes the body of effected individuals to absorb and hold onto large amounts of copper. The copy deposits store up in the tissues, the liver, the eyes, and the kidneys. These copper deposits cause damage, tissue death, and scarring, which will eventually cause the organs to malfunction. Wilson's Disease is commonly found in Southern Italians, Sicilians, and Eastern Europeans, though; it can affect individuals of any ethnic group. This disease affects individuals under the age of forty. And when children are effected, they will exhibit symptoms by the age of four (Google Health, 2010).

Symptoms

To have a full understanding of Wilson's Disease and to better understand individuals who are afflicted with this disease, it is fitting to develop a knowledge of the symptoms. The symptoms of Wilson's Disease are as follows:

-Difficulty moving the limbs (The arms and legs of an effected individual will become stiff.).
-Changes in one's emotions or behavior.
-Impaired speech.
-Tremors in hands and arms.
-The enlarging of the stomach.
-Vomiting up blood.
-Changes in personality.
-The occasional loss of IQ points.
-Uncontrolled movement.
-Movements that are unpredictable and jerky in nature.
-Phobias and distress.
-Difficulty with walking.
-Slow overall movements.
-Dementia.
-Confusion.
-Abnormal posture of the arms and legs.
-Splenomegaly.
-Decreased facial movement and decreased facial expressions.
-Overall weakness.
-Yellowing of the skin and eyes (Google Health, 2010).

Causes

In order for this disease to be inherited, both parents must carry a copy of the defective gene. If both parents have the defective gene, there is a twenty-five percent chance of the child inheriting the disease with each pregnancy (Google Health, 2010).

Tests

There are various tests that can be performed that can determine the diagnosis of Wilson's Disease. Effected individuals will undergo a slit-lamp eye examination, which will enable health professionals to see if there are rusty colored rings around the irises and limited eye movement. Individuals will also be expected to have an in-depth physical examination, which will determine if there is damage to the nervous system and disorders of the liver and spleen. Along with the eye examination and the physical, individuals will need to have a 24-hour urine copper test, a CT scan of the head and abdomen, an MRI of the head and abdomen, an X-ray of the abdomen, and a biopsy of the liver (Google Health, 2010).

The gene responsible for Wilson's Disease is ATP7B. DNA testing can be done to determine if parents are carriers; however, such tests are difficult, since gene mutations differ among various ethnic groups (Google Health, 2010).

Treatment

an individual with Wilson's Disease must undergo treatment to reduce the amount of copper in the tissues. This treatment is known as chelation, which consists of medications that will bind up the copper and move it out of the body through the gut or the kidneys. Three medications that may be used are Penicillamine (this medication binds up copper and leads and causes them to be released through urination.), Trientine (this medication is also used to bind up copper and caused it to be released in the urine.), and Zinc acetate (This particular medication prevents copper from being absorbed into the intestinal tract.). Vitamin E supplements may also be taken along with these medications to help reduce scarring (Google Health, 2010).

It is important to understand that even though these medications are effective, they can sometimes cause complications in the central nervous system. However, there are other medications that are being investigated that are not so harmful (Google Health, 2010).

Along with taking medications and vitamin E supplements, it is important to avoid a diet that is high in copper. Effected individuals will want to avoid foods, such as dried fruit, shellfish, chocolate, liver, mushrooms, and nuts. It is also strongly recommended that individuals with Wilson's Disease drink only distilled water, since water from the tap runs through copper pipes. Also, effected individuals or individuals caring for these individuals will need to abstain from cooking with copper utensils and cookware at all costs (Google Health, 2010).

Symptoms can be treated by exercising. Individuals who are not able to care for themselves will need protective measures to be implemented to insure their safety. If the damage to the liver is too great or if liver failure is eminent, a liver transplant will be necessary (Google Health, 2010).

Prognosis

Individuals with Wilson's Disease must receive treatment throughout their entire lives to effectively control the disease. The condition can become fatal, especially when organ failure occurs and the amount of copper in the body becomes toxic. If Wilson's Disease does not become fatal, it can be disabling (Google Health, 2010).

Complications of the Disease

Wilson's Disease can cause a number of complications to occur. The complications of Wilson's Disease are:

-Dysfunction of the spleen.
-Atrophy of the muscles.
-The loss of the ability to care for oneself.
-Complications in the central nervous system.
-An increased number of infections.
-The loss of the ability to function at home or at work.
-Side effects of medications that are used to treat Wilson's disease.
-Injuries from falling.
-A fatty liver.
-Psychological complications.
-Loss of the ability to socialize and interact with others effectively.
-The death of organ tissues (The liver and kidneys are effected.).
-Cirrhosis.
-An increased amount of bone fractures.
-Contractures of the joints and other types of deformities.
-Hepatitis.
-Jaundice.
-Anemia (Google Health, 2010).

Damage to the central nervous system and liver failure are the most common complications of Wilson's Disease. If Wilson's Disease is not caught and treated quickly, the condition can become fatal, resulting in death (Google Health, 2010) (Google Health, 2010).

Sources

Google Health. (2010). Wilson's Disease. Retrieved from
https://health.google.com/health/ref/Wilson%27s+disease