Wilson’s Disease

Wilson’s Disease – General Information

Wilson’s Disease is an inherited disease which is characterized by an excessive accumulation of copper in the brain, liver and other organs in the body. This disorder can appear and develop in a large number of forms and types, but the common thing about all these is the fact that the disorder can evolve gradually for a few years without causing any signs or symptoms. Cooper is an essential agent in the human body and it plays quite an essential role in the growth of the bones, the nerves, the skin pigment and the collagen. In a normal process, the cooper is taken from the food we eat and the quantity which is found in excess is eliminated through the bile. In the case of those who suffer from Wilson’s Disease the extra quantity of cooper is not properly excreted and it accumulates; if the disorder is not diagnosed in due time it can even result in a life-threatening problem. On the other hand, if it is diagnosed in an early stage, it can be treated effectively and then the patient can have a normal life. There are some foods which contain big quantities of cooper, such as shellfish, liver, nuts, mushrooms and avocados; when a person eats this kind of products, the cooper needed by the body is absorbed in the small intestine and the excess quantity is carried off by the bile. In the case of Wilson’s Disease, when the excess quantity is accumulated in the liver, some irreversible and serious complications can appear.

Wilson’s Disease – Symptoms

As Wilson’s Disease is an inherited disorder, it is characterized by the fact that the accumulation of cooper in the body starts soon after birth. However, the signs and symptoms appear after a long period of time; in some rare cases, the first signs of the disease occur in the first 4 or 5 years of life but, in most of the cases they are noticeable after the age of 20. In that stage, the symptoms differ a lot, considering which part of the body is affected. If the disease affects the liver, the most common signs which have been reported are the following: abdominal pain, whites of the eyes, yellowing of the skin. Other complications which can develop consist of: vomiting blood, anemia and general discomfort. If this form of the disease is not treated efficiently, it can result in the appearance of cirrhosis, a disorder which irreversibly affects the ability of the liver to function normally. Cirrhosis is usually associated with an enlarged spleen, swelling of the legs and the abdomen.

If the disease affects the central nervous system, the patients may present one or more of the following symptoms: muscles spasms, drooling, tremors, difficulty speaking and unsteady walk. Apart from these complications, the Wilson’s Disease is also characterized by severe psychological and behavioral problems, such as extreme and abrupt personality changes. On the other hand, even if the disease does not lead to the appearance of any signs or symptoms, the patients usually present an unusual pigmentation around their corneas.

Wilson’s Disease – Treatment

Even though the signs and symptoms which characterize Wilson’s Disease may appear a few years later than the disease, you should seek for medical care as soon as you notice the presence of one or more of the following: problems with balance, difficulty speaking, tremors in the hands and the feet and abdominal pain.  However, the diagnosis for this disease is quite hard to establish firstly because it can be easily confounded with other problems, such as alcoholic cirrhosis, hepatitis or a liver disease. In addition, not even a genetic test can identify it for sure. This is the reason why, if your doctor suspects that you suffer from this disease, he will recommend you one or more of the following tests: a urine test, a blood test, an eye exam, a liver biopsy and some genetic tests. The urine and blood test is useful in order to measure the level of cooper in the blood and the quantity which is excreted. The eye examination can provide information about an unusual pigmentation of the cornea, whereas the liver biopsy gives information about a high level of cooper in the liver. This procedure, however, can lead to the appearance of some side-effects, such as infections or bleeding. The genetics tests, such as the haplotype analysis can identify who in a family may suffer from this disease.

After the disease is diagnosed, the doctor has to choose the best way of treatment in order to stabilize the patient’s condition, to remove the extra quantity of cooper in the body and to prevent cooper to accumulate again. In the case of Wilson’s Disease, the treatment usually proves quite useful and it can lead to a significant improvement of the signs and symptoms which a patient experiences. The most common way of treating Wilson’s Disease is the administration of certain drugs: penicillamine, trientine, zinc acetate or tetrathiomolybdate. Penicillamien is used in order to bind the cooper and to form a water-soluble complex which can be excreted in the urine; even though is quite a safe way of treating this disease, it ca lead to the appearance of some side-effects, such as bone marrow suppression, skin problems or other neurological problems. In most of the cases, the doctor will also prescribe the patient some vitamin B-6 supplements, as the penicillamien usually cause a deficiency of this nutritional agent.

In the case of the patients who also suffer from liver or neurological complications, the doctor will probably choose to replace the penicillamine with trientine, as it is less toxic. On the other hand, the zinc acetate acts quite different and it prevents the absorption of cooper in the small intestine and the stomach. Another way of treating Wilson’s Disease is liver transplantation which is usually used in the case of those who experience serious liver disorders or hepatitis. The most important thing which should be remembered by those who suffer from Wilson’s Disease is the fact that, after the treatment, they have to follow a strict diet in order to prevent the reappearance of the disorder.