Wilson-Konovalov disease
Wilson-Konovalov disease also known as hepatolenticular degeneration and progressive lenticular degeneration, is a rare genetic disorder that causes copper poisoning in the body. It affects about 1 in 30,000 people worldwide.
In a healthy body, the liver filters out excess copper and releases it through urine. With Wilson’s disease, the liver cannot remove the extra copper properly. The extra copper then builds up in organs such as the brain, liver, and eyes.
Early diagnosis is crucial for stopping the progression of Wilson’s disease. Treatment may involve taking medication or getting a liver transplant. Delaying or not receiving treatment can cause liver failure, brain damage, or other life-threatening conditions.
Talk to your doctor if your family has a history of Wilson’s disease. Many people with this condition live normal, healthy lives.
The signs and symptoms of Wilson’s disease vary widely, depending on which organ is affected. They can be mistaken for other diseases or conditions. Wilson’s disease can only be detected by a doctor and through diagnostic testing.
Liver-related
The following symptoms may indicate copper accumulation in the liver:
- weakness
- feeling tired
- weight loss
- nausea
- vomiting
- loss of appetite
- itching
- jaundice, or yellowing of the skin
- edema, or the swelling of legs and abdomen
- pain or bloating in the abdomen
- spider angiomas, or visible branch-like blood vessels on the skin
- muscle cramps
Many of these symptoms, such as jaundice and edema, are the same for other conditions like liver and kidney failure. Your doctor will conduct multiple tests before confirming a diagnosis of Wilson’s disease.
Neurological
Copper accumulation in the brain can cause symptoms such as:
- memory, speech, or vision impairment
- abnormal walking
- migraines
- drooling
- insomnia
- clumsiness with hands
- personality changes
- changes in mood
- depression
- problems in school
In the advanced stages, these symptoms may include muscle spasms, seizures, and muscle pain during movement.
Kayser-Fleischer rings and sunflower cataract
Your doctor will also check for Kayser-Fleischer (K-F) rings and sunflower cataract in the eyes. K-F rings are abnormal golden-brown discolorations in the eyes that are caused by deposits of excess copper. K-F rings show up in about 97 percent of people with Wilson’s disease.
Sunflower cataracts show up in 1 out of 5 people with Wilson’s disease. This is a distinctive multicolored center with spokes that radiate outward.
Other symptoms
The buildup of copper in other organs can cause:
- bluish discoloration in the nails
- kidney stones
- premature osteoporosis, or lack of bone density
- arthritis
- menstrual irregularities
- low blood pressure
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