Man Develops Copper Rings in His Eyes, Doctors Discover 'Genetic Mutation' to Blame

By Amanda Thomason October 7, 2021 at 3:22pm

When a 47-year-old man in India went to the doctor, his primary reason for the appointment was some swelling in his abdomen that had been going on for over two months.

The man said he didn’t drink alcohol and wasn’t on any medications or supplements that could cause his state, but the swelling was bad enough that he knew he needed to go in.

During the exam, doctors noticed discolored rings around his eyes: a telltale sign that something serious was going on.

The bands, created by a buildup of copper in the cornea, were the tip of the iceberg. Known as Kayser-Fleischer rings, they indicate that the body is experiencing a buildup of copper that can often extend to deposits in the liver and brain, poisoning the body.

The unnamed man also had swollen ankles, minor cognitive impairment and tremoring, all pointing to the diagnosis of Wilson’s disease. The condition results when a genetic mutation keeps the body from removing copper and can be deadly if not treated.

In this particular case, which was outlined recently in The New England Journal of Medicine, the man did test positive for the mutation, according to Live Science.

The particular mutation is rare, but not extremely so, and is found at a rate of one per 7,000 people, according to the National Institute of Health. Before genetic testing was available, it was thought to be present in every 30,000 individuals. Though more common than first believed to be, not all people with the genetic mutation will develop the disease.

Upon further investigation, the man was also found to have cirrhosis — a condition seen in up to half of all people with Wilson’s disease. His condition was so poor that he was quickly placed on a liver transplant list.

The man began taking zinc to help block his body from absorbing more copper, and he was put on a chelating agent medication, which went to work removing the present copper from his body, Live Science reported.

Copper might be something you don’t think about much, but it has an important role to play in the body — in the right amount.

“Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin,” the Mayo Clinic’s page on the disease states. “Normally, copper is absorbed from your food, and excess is excreted through a substance produced in your liver (bile).”

“But in people with Wilson’s disease, copper isn’t eliminated properly and instead accumulates, possibly to a life-threatening level. When diagnosed early, Wilson’s disease is treatable, and many people with the disorder live normal lives.”

The condition is inherited, so if your immediate family has Wilson’s disease, you’re more likely to have it or carry a copy of the defective gene and be able to pass it on to your children.

People can be diagnosed with this condition as early as childhood once the copper buildup has become apparent, and it can be managed with medication if caught.

Thankfully, this man found out in time what the copper rings around his eyes meant — and if you didn’t already know, now you do, too.

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