Wilson disease is an uncommon hereditary condition that causes copper to store up in the liver, brain and other organs. The disease is usually diagnosed in individuals between the ages of 5 and 35, but it can also affect younger and older people too. It is a genetic disorder that can prove fatal if left untreated in advance of copper poisoning. Wilson disease affects about one in 30,000 people worldwide.
When ingested via food, copper plays a key role in the development of robust nerves, bones, collagen and the skin pigment melanin. Copper also aids in the production of red blood cells, the absorption of iron and the regulation of heart rate and blood pressure. Foods that are high in copper content include liver, dark chocolate, lentils and cashews. For most people, copper will be absorbed from these foods and any excess will be excreted through a substance produced in the liver called bile. In people with Wilson disease, copper isn’t removed properly and is instead stored at possibly life-threatening levels.
When diagnosed promptly, many people with the disorder go on to live normal lives. Early detection is sometimes hindered because Wilson disease is frequently confused with alcoholic liver disease, fatty liver disease found in obese individuals or acute liver failure brought on by hepatitis viruses or drugs. It can also be confused with neurological diseases like multiple sclerosis and Parkinson’s disease. Although signs and symptoms vary depending on the affected part of the body, what follows are general symptoms associated with Wilson disease.
1. Fatigue
Feeling tired from time-to-time is commonplace for the average adult. However, chronic fatigue can be a sign of inflammation in the body. Fatigue on its own is often viewed as simply the byproduct of the fast-paced lifestyle most of us lead. When fatigue is accompanied by one or more symptoms listed here, it could be an indication of Wilson disease. Sufferers of this rare disease often report fatigue lasting for up to a year before undergoing more in depth testing that diagnoses Wilson disease. They also report that doctors initially prescribed an anti-depressant or iron tablets to combat the fatigue. Seeking a second opinion is advisable when prolonged fatigue is affecting your daily activities.
[nextpage title=“Next” ]2. Lack of Appetite or Abdominal Pain
Wilson disease sufferers often report stomach pain and lack of appetite as one of the first symptoms. Stomach pain is often accompanied by abdominal bloating, nausea and frequent vomiting. Fluid buildup in the belly area leads to weight gain and moderate to acute discomfort. One’s lack of appetite is compounded by having to avoid many foods such as mushrooms, nuts, chocolate, liver, sesame seeds, avocados, bran products, shellfish and copper-containing vitamin and mineral supplements. After diagnosis, zinc is sometimes prescribed because it is known to prevent absorption of copper from consumed food. Wilson disease sufferers are encouraged to have well water and copper pipes tested for copper levels.
[nextpage title=“Next” ]3. A Yellowing of the Skin and the Whites of the Eye Jaundice
Jaundice itself is not always considered dangerous. Rather, it is a symptom of a disease or an affliction. It occurs when there is too much bilirubin in the system. A yellow-orange pigment, bilirubin is created by the breakdown of dead red blood cells in the liver. In a healthy liver, bilirubin is excreted along with old red blood cells. Yellowing of the skin and eyes may indicate a serious problem with the liver and is a symptom of Wilson disease. Your doctor will ask you about symptoms, your medical history and possibly the medical history of family members. Proper liver functioning can be tested by means of bloodwork, a physical exam and imaging tests.
[nextpage title=“Next” ]4. Golden-Brown Eye Discoloration Kayser-Fleischer Rings
Found in 95% of all patients, Kayser-Fleischer ring is the most distinctive identifying diagnostic sign in Wilson disease. Practically all patients with Kayser-Fleischer rings suffer from neurological symptoms of the disease. While similar rings have been discovered in other ailments, the denseness of a Kayser-Fleischer ring shows a relationship with the acuteness of Wilson disease. The rings manifest as dark rings that seem to encircle the iris of the eye. They are due to the copper deposits in the cornea as a result of Wilson disease and other liver ailments. Kayser-Fleischer rings initially appear as a crescent at the top of the cornea. Ultimately, a second crescent forms below, at the bottom, and eventually encircles the entire cornea.
[nextpage title=“Next” ]5. Fluid Buildup in the Legs or Abdomen
Edema is a condition characterized by an excess of fluid accumulating in the cavities or tissues of the body. Those suffering from Wilson disease may be subjected to pitting edema in the legs and stomach. When edema is present along with Kayser-Fleischer Rings, doctors are able to make a preliminary, but reliable, diagnosis of Wilson disease. When the liver is diseased, the flow of blood through the vein is impaired. Medical journals describe the increased fluid retention as ascites. Ascites increases abdominal pressure and distends the abdomen. The development of ascites is a major predictor of the patients healing outcome.
[nextpage title=“Next” ]6. Problems with Speech
Sometimes, Wilson disease causes neurological symptoms to arise, including involuntary movements and voice tremors. These neurological symptoms are connected to the accumulation of copper in specific regions of the brain such as the brainstem and the cerebellum. Difficulty speaking is one of the more common neurological symptoms when the disease is not discovered and treated early enough. Articulating words in an inconsistent manner may be accompanied by tremors in the body and in the voice. This symptom has proven to be resistant to medical or voice rehabilitation therapies. Speech problems, especially when accompanied by other symptoms listed here, is a cardinal feature of Wilson disease. Therefore, medical intervention should be sought sooner rather than later.
[nextpage title=“Next” ]7. Problems Swallowing or Physical Coordination
Individuals diagnosed with Wilson disease often complain of abnormal throat sensations and discomfort when swallowing, Studies are inconclusive regarding the specific reason for the discomfort. Some describe the sensation as having a constant lump in the throat. Other strong predictors of Wilson disease include pain while swallowing, difficulty controlling food in the mouth and coughing or choking when swallowing. Strong predictors related to abnormal physical coordination include slowed movement, difficulty walking, muscles tensing up without warning and sudden jerks. A young lady who suffers from Wilson disease reported that, before she was diagnosed, she was consistently refused admittance to clubs due to her inability to walk straight and speak properly.
[nextpage title=“Next” ]8. Uncontrolled Movements or Muscle Stiffness
The previously mentioned young lady also noted that she experienced uncontrolled movements and muscle stiffness. Sometimes a pencil would jump from her fingers while trying to write. She routinely suffered from joint pain in her knees. Symptoms also include shaking hands and weak legs. Joint stiffness may manifest in the jaw and cause a mask-like expression. Uncontrollable movements may be caused by the thinning and softening of the bones. The muscle stiffness and joint pain can also be related to fluid buildup in the legs. Seek medical attention for an evaluation if you experience any of these symptoms or a combination of several of them.
