Wilson’s disease, a genetic disorder caused by a buildup of copper in the body, affects around 1 in 30,000 people in the United States, making it a very rare condition. It can cause symptoms to appear in the brain as well as other structures of the body, such as the bones and muscles. Some of the symptoms can be severe, including problems with the liver, making treatment of Wilson’s disease a priority. Find out about the top 10 symptoms of Wilson disease.
Kayser-Fleischer Rings
The most common symptom of Wilson’s disease is the appearance of Kayser-Fleischer rings, and it’s often the first sign doctors look for. Kayser-Fleischer rings are formed by the deposition of copper in the Descemet membrane in the eye. Kayser-Fleischer rings may appear greenish gold, brown, or any color in between. Sometimes the rings are visible to the naked eye, while in other cases they require an ophthalmoscope to be seen. Nearly everyone with Wilson’s disease reports this symptom.
Renal Symptoms
The high concentration of copper in the body can cause a wide array of symptoms to appear that affect the blood as well as the kidneys. Between 10 percent to 15 percent of all Wilson’s disease patients develop acute hemolysis as a consequence of the oxidative damage caused by excessive amounts of copper in the body. Another related symptom is urolithiasis, which refers to the formation of stones in the bladder, which is an especially painful symptom. It is important to treat Wilson’s disease as soon as possible to avoid further complications that may affect the kidney.
Musculoskeletal Symptoms
Symptoms that appear in the muscles and bones are very frequent in people that have been diagnosed with Wilson’s disease. Because this condition is degenerative, the adverse effects on the bone and muscle tissue can be significant over time. These symptoms often affect bones in the knee, hip or spine, and they’re most likely to affect people older than 20. They may make it difficult to perform physical exercise, and they may reduce mobility. If you have pain in the bones or muscles, consult your doctor.
Psychiatric Symptoms
Around 10 to 20 percent of all patients with Wilson’s disease report emotional instability, disinhibition, and other psychiatric symptoms. These symptoms can often affect the ability to perform daily activities that involve emotion, such as maintaining social relationships or going to work or school. In the long term, Wilson’s disease can cause profound behavioral changes as well as cognitive impairment. In particular cases, the symptoms caused have been described as schizophrenic-like due to their aggressiveness.
Difficulty Speaking
Sometimes, Wilson disease can cause neurological symptoms to develop, including tremors or involuntary movement, if liver disease is not treated early enough. Among the most common neurological symptoms is difficulty speaking. This may be accompanied by difficulty swallowing as well as difficulty consistently articulating words.
Changes in Personality
Often, mental effects are the first symptoms of Wilson’s disease to be noticed, even though they usually occur at the same time as physical symptoms. Some people experience changes in mood and are often more likely to become aggressive as well as irritable. Depression is also common in individuals with Wilson’s disease.
Liver Problems
People with Wilson disease commonly experience inadequate functioning of the liver, often caused by inflammation. Symptoms include jaundice or a yellowing of the skin. Patients may also report abdominal pain as well as vomiting and nausea. If left untreated, these conditions may develop into cirrhosis, causing irreversible liver damage.
Pancreatitis
Pancreatitis is an inflammation of the pancreas, which can happen if the digestive enzymes activate before releasing into the small intestine. People with Wilson’s disease may develop pancreatitis as a result of copper deposits in the pancreas, although this symptom is quite unusual and only appears in a few cases.
Anemia
Another symptom that may be present in people with Wilson’s disease in anemia. This is a blood condition with low amounts of hemoglobin. If your blood doesn’t have enough hemoglobin, it won’t be able to transport oxygen and nutrients throughout your body, causing a broad range of symptoms to appear, including fatigue and weakness. Treat anemia by taking supplements or making changes in your diet. Medical research has shown that hemolytic anemia, which is related to liver failure, may sometimes be present in certain Wilson’s disease patients.
Other Symptoms
People who develop Wilson’s disease may also manifest other more infrequent symptoms. Occasionally, Wilson’s disease may cause skeletal abnormalities to appear by causing fractures. Some people may develop cardiac manifestations, with rhythm abnormalities as well as an increased autonomic tone. Lastly, individuals with Wilson’s disease may also show unusual skin pigmentation, as well as a discoloration at the base of the fingernails.