Wilson’s disease: A rare genetic disorder where copper accumulation can lead to neurological dysfunction

Wilson's disease causes an impaired excretion of copper from the liver. (Picture Credit: Canva)

Wilson’s disease is an autosomal recessive disorder that occurs because of mutations in the ATP7B gene. It causes an impaired excretion of copper from the liver, which leads to its accumulation in the tissues of the liver and the brain, along with cornea and kidneys. When left untreated, it can cause damage to multiple organ systems and results in significant morbidity.

Copper initially accumulates in the liver, which damages the tissue and leads to hepatocellular injury. Once the storage capacity of the liver is exceeded, copper travels via the blood into the brain and the cornea. It also reaches the kidneys and joints. When this mineral is present in excess in the body, inflammation and fibrosis is seen, along with neurological dysfunction.

During childhood, Wilson’s disease usually presents with liver-related manifestations. Symptoms like jaundice and an enlarged liver are seen, and the liver enzymes are found to be elevated. Episodes of acute hepatitis are common. Some people develop chronic liver disease, which may progress to cirrhosis. In severe cases, fulminant hepatic failure occurs, which may be a life-threatening condition if not treated on time.

Neurological Features

In the second decade, a person with Wilson’s disease may develop neurological symptoms like tremors, difficulty in speaking, reduced tone, and poor coordination. Other symptoms like abnormalities in the gait and features similar to Parkinson’s disease are also common. Shifts in the personality of the affected person may be noticed by the family members, like increased irritability and symptoms of depression. Cognitive decline also accompanies these features. As cooper keeps accumulating in the part of the brain known as basal ganglia, symptoms worsen.

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Psychiatric Symptoms

Psychiatric symptoms may remain under-recognised, like mood disorders and features of anxiety, along with a decreased academic performance. In some cases, psychosis may also be seen, and such symptoms mimic other psychiatric illnesses, which may lead to a delay in the diagnosis of Wilson’s disease.

KF Ring

The KF ring, also known as the Kayser-Fleischer ring, is a golden-brown colour or greenish colour ring at the periphery of the cornea in the eye, which occurs due to the deposition of copper. It strongly suggests a neurological involvement.

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Diagnosis and Treatment

An MRI of the brain may be advised by the healthcare provider, and chelation therapy and zinc therapy may be recommended for treatment of this condition. Early identification can aid in reducing complications.

FAQs on Wilson’s disease:

Q. What is Wilson’s disease?

It is a rare genetic disorder that causes excess copper to build up in the liver, brain, and other organs.

Q. What are the common symptoms?

Symptoms include liver problems, tremors, difficulty speaking, mood changes, and fatigue.

Q. How is Wilson’s disease diagnosed?

It is diagnosed through blood tests, urine copper tests, eye examination, and sometimes genetic testing.

Q. Is Wilson’s disease treatable?

Yes. Lifelong treatment with medications that remove excess copper can control the disease.

Q. Who is at risk for Wilson’s disease?

People who inherit the faulty gene from both parents are at risk, usually showing symptoms before age 40.

Disclaimer: This article, including health and fitness advice, only provides generic information. Don’t treat it as a substitute for qualified medical opinion. Always consult a specialist for specific health diagnosis.