Eye Health

Causes, symptoms, and diagnosis of Wilson’s disease

One of the rarest inherited disorders, Wilson’s disease leads to the accumulation of excess copper in some of the vital organs of the body, most commonly the brain, eyes, and liver. Generally, Wilson’s disease is diagnosed between the age of 5 years and 35 years. However, a younger or older person can also be diagnosed with this disorder.

Also known as progressive lenticular degeneration and hepatolenticular degeneration, Wilson’s disease has been known to affect nearly 1 in 30,000 people globally. Although an early diagnosis can help prevent the progression of the disorder, it is quite difficult to detect it in the initial stages.

Read on to know more about this degenerative disorder.

Causes of Wilson’s disease
Wilson’s disease is caused due to a gene mutation. The mutation is caused in the gene known as ATP7B. This gene is responsible for helping the liver get rid of excess copper from the body. The excess copper is released in the bile, which is excreted through the digestive tract. Wilson’s disease prevents the liver from removing the excess copper, and there is less copper released in the bile. The extra copper is retained in the body, and it builds up in the eyes, liver, brain, and other organs. This leads to copper poisoning.

For a person to have Wilson’s disease, they will have to inherit one copy of the mutated gene from both the parents. If one of the parents has the condition or carries the mutated gene, a person will not have Wilson’s disease, but they become a carrier who can pass the abnormal gene to their children. In some cases, the mutated gene skips a generation. So, a genetic test is often recommended.

Common symptoms to look out for
The symptoms of this disease vary from case to case and depend on which organ is affected. If there is excess copper accumulation in the liver, the symptoms will include weakness, fatigue, weight loss, nausea, vomiting, appetite loss, itching, jaundice, edema, bloating or pain in the abdomen, spider angiomas, and muscle cramps. Most of these symptoms are similar to those of diseases caused by kidney or liver failure. Hence, multiple tests are recommended by doctors before they confirm the diagnosis of Wilson’s disease.

In the case of copper accumulation in the brain, a person may experience impairments in vision, memory, or speech. Additionally, there can be migraines, abnormal gait while walking, insomnia, drooling, clumsiness with hands, changes in personality, changes in mood, and depression. A person in the advanced stages may have muscle spasms, muscle pain, and seizures.

One of the most apparent symptoms is the formation of Kayser-Fleischer (K-F) rings and sunflower cataracts in the eyes. K-F rings appear in the eyes as golden-brown discolorations. Sunflower cataracts have multicolored centers with spokes radiating outward.

Other symptoms can include kidney stones, bluish discolorations in the nails, premature osteoporosis, low blood pressure, arthritis, and menstrual irregularities.

How is it diagnosed?
The symptoms of Wilson’s disease are similar to those of cerebral palsy, hepatitis C, and heavy metal poisoning. Hence, an early diagnosis is quite difficult. In most cases, doctors rule out Wilson’s disease when the neurological symptoms occur but there are no visible K-F rings. However, this method does not work for those with symptoms related to the liver, or those with no symptoms at all. Moreover, the symptoms evolve over time, making diagnosis all the more difficult. Usually, doctors look at the family history of the patient through genetic testing and recommend blood tests, MRI scans, CT scans, urine tests, eye examination, and liver biopsy to diagnose Wilson’s disease.