Wilsons Syndrome

Wilsons syndrome is an inherited disorder in which there is an overproduction or absorbtion of copper in the body, damaging the liver and nervous system.

Wilsons Syndrome Symptoms

Wilsons syndrome symptoms begin to show by age 4 and are commonly recognized as Wilsons syndrome by unusual symptoms accomodating the bone, joint, and movement problems. Wilsons syndrome symptoms and complications include unusual arm and leg posture and bone and joint stiffness, dementia and delirium, difficulty walking (ataxia), psychological changes that affect emotions, moods, cause phobias, speech problems, abdomen problems like Splenomegaly and general abdominal distention, weakness, lethargy and jaundice, or a yellowing of the eye whites (icterus).

More startling symptoms of Wilsons syndrome are involuntary limb tremors and surprising jerking of the hands, legs or other parts of the body.

Wilsons Syndrome Causes

Wilsons syndrome is caused by genetics as it is a rare inherited disorder. Babies of parents, both of whom have Wilsons syndrome are at a 25% risk of inheriting Wilsons syndrome. Some races and ethnic groups are at an increased risk as Wilsons syndrome seems to occur more often in eastern Europeans, Sicilians, and southern Italians.

Wilsons Syndrome Testing

Wilson syndrome diagnosis includes testing for copper levels in the body and possible complications of liver problems or eye problems. Doctors will want to test for uric acid, unusually high bilirubin levels, urine copper or possible low albumin.

Bone problems maybe diagnosed through x-rays or other imaging tests like MRIs or CT scans. Brain problems may be shown on brain CT scans. DNA testing for gene (ATP7B) causing Wilsons syndrome is an option.

Wilsons Syndrome Treatement

Wilsons syndrome treatment focuses on reduction of copper levels in the body by chelation therapy with the basic premise of increase in copper removal through the kidneys or gut. Some doctors recommend increasing Vitamin E consumption and decreasing copper consumption, by taking out foods like chocolate, dried fruit, mushrooms, nuts or shellfish from the patient's diet.

Patients are encouraged to learn about different types of water to avoid water that contains copper. Distilled, filtered water sometimes contains less copper that may be found in copper pipes. Patients are encouraged to avoid copper cooking utensils.

If prevention techniques do not help, some doctors recommend over-the-counter or prescription medications or physical therapy for patients not suffering from debilitating complications.

Treatment and close attention to controlling Wilsons syndrome is necessary for long-term survival. Without proper care, Wilsons syndrome may involve complications that damage vital organs and cause death. Patients need to be watchful of possible complications like worstening central nervous system function causing psychological problems, Anemia, liver problems like fatty liver, liver cirrhosis or spleen dysfunction.

Other complications may be weakened and brittle bones resulting in bone fractures or joint dislocation and in some cases, bone infections.