Have you been diagnosed with Wilson disease

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Have you been diagnosed with Wilson disease

Have you been diagnosed with Wilson disease

Wilson's disease is a genetic disorder in which excess copper builds up in the body. Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build-up in the abdomen, swelling of the legsyellowish skin, and itchiness. Brain-related symptoms include tremors, muscle stiffness, trouble speaking, personality changes, anxiety, and psychosis.

Wilson's disease is caused by a mutation in the Wilson disease protein (ATP7Bgene. This protein transports excess copper into the bile, where it is excreted in waste products. The condition is autosomal recessive;

The main sites of copper accumulation are the liver and the brain, and consequently, liver disease and neuropsychiatric symptoms are the main features that lead to a diagnosis. People with liver problems tend to come to medical attention earlier, generally as children or teenagers than those with neurological and psychiatric symptoms, who tend to be in their twenties or older. Some are identified only because relatives have been diagnosed with Wilson's disease; many of these, when tested, turn out to have been experiencing symptoms of the condition but have not received a diagnosis.

About 5% of all people are diagnosed only when they develop fulminant acute liver failure.

Symptoms

Neurological Symptom- About half the people with Wilson's disease have neurological or psychiatric symptoms. Most initially have mild cognitive deterioration and clumsiness, as well as changes in behavior. Hand tremor, masked facial expressions, slurred speech, ataxia (lack of coordination), or dystonia (twisting and repetitive movements of part of the body).

Cognition can also be affected by Wilson's disease. This comes in two, not mutually exclusive, categories: frontal lobe disorder (may present as impulsivity, impaired judgment, promiscuity, apathy, and executive dysfunction with poor planning and decision making) ,

Psychiatric problems due to Wilson's disease may include behavioral changes, depression, anxiety disorders, and psychosis. Psychiatric symptoms are commonly seen in conjunction with neurological symptoms and are rarely manifested on their own. These symptoms are often poorly defined and can sometimes be attributed to other causes. Because of this, diagnosis of Wilson's disease is rarely made when only psychiatric symptoms are present.[7]

Diagnosis

Levels of ceruloplasmin are abnormally low (<0>

Serum copper is low.

Urine copper is elevated in Wilson's disease. Levels above 100 ?g/24h (1.6 ?mol/24h) confirm Wilson's disease, and levels above 40 ?g/24h (0.6 ?mol/24h) are strongly indicative.

Liver biopsy - A level of 250 ?g of copper per gram of dried liver tissue confirms Wilson's disease. 

Eyes: Kayser–Fleischer rings (KF rings), a pathognomonic sign, may be visible in the corner of the eyes, either directly or on slit-lamp examination as deposits of copper in a ring around the cornea

Treatment

DietIn general, a diet low in copper-containing foods is recommended with the avoidance of mushrooms, nuts, chocolate, dried fruit, liver, sesame seeds and sesame oil, and shellfish.

Medication

Medical treatments are available for Wilson's disease. Some increase the removal of copper from the body, while others prevent the absorption of copper from the diet.

Generally, penicillamine is the first treatment used. This binds copper (chelation) and leads to excretion of copper in the urine. Hence, monitoring of the amount of copper in the urine can be done to ensure a sufficiently high dose is taken. Those intolerant to penicillamine may instead be commenced on trientine hydrochloride, which also has chelating properties. Some recommend trientine as first-line treatment, but experience with penicillamine is more extensive. 

Once all results have returned to normal, zinc (usually in the form of a zinc acetate) may be used instead of chelators to maintain stable copper levels in the body. Zinc therapy is continued unless symptoms recur or if the urinary excretion of copper increases.

People who are asymptomatic (for instance, those diagnosed through family screening or only as a result of abnormal test results) are generally treated, as the copper accumulation may cause long-term damage in the future. It is unclear whether these people are best treated with penicillamine or zinc acetate.

Physical and occupational therapies

Physiotherapy and occupational therapy are beneficial for patients with the neurologic form of the disease. The copper chelating treatment may take up to six months to start working, and these therapies can assist in coping with ataxia, dystonia, and tremors, as well as preventing the development of contractures that can result from dystonia.

Transplantation

Liver transplantation is an effective cure for Wilson's disease but is used only in particular scenarios because of the risks and complications associated with the procedure. It is used mainly in people with fulminant liver failure who fail to respond to medical treatment or in those with advanced chronic liver disease.

DR. Rakesh Rai. MS, FRCS, MD, CCT, ASTS Fellow.