Wilson disease is a rare genetic disorder that causes excess copper to accumulate in your liver, brain, and other vital organs. While it’s normal for your body to need a small amount of copper to keep you healthy, a surplus of copper can be harmful. Wilson disease is usually treatable with lifelong therapies, but it can lead to high copper levels and potentially fatal organ damage without treatment. We share five interesting facts about this rare disease.
Fact #1: Wilson disease is quite uncommon.
Wilson disease is an uncommon ailment that affects 30,000 to 40,000 people around the world. It affects both men and women in equal numbers, and it can be found in people of all colours and ethnicities. Only roughly one out of every 90 people are thought to be a carrier of the disease gene. The condition affects your liver, brain, and other essential organs; other afflicted persons may be misdiagnosed with other neurological, hepatic, or psychiatric disorders.
Fact #2: The symptoms affect the liver, the central nervous system, and the eyes:
A Kayser-Fleischer ring, which may be seen with an ophthalmologist’s lamp, is one of Wilson disease’s distinctive symptoms. A copper deposit in the eyes causes the Kayser-Fleischer ring, which appears as a rusty-brown ring around the iris’s edge and in the cornea’s rim.
Wilson disease mostly affects the liver, but it can also affect the central nervous system. Wilson disease is characterised by signs and symptoms that accompany chronic liver diseases, such as liver or spleen swelling and jaundice (yellowing of the skin and whites of the eyes)
A tendency to bruise quickly if there is fluid buildup in the legs or abdomen tiredness
- Furthermore, some people have a copper buildup in the central nervous system, which can cause neurologic symptoms like speech, swallowing, and physical coordination.
- uncontrollable movements or tremors
- The rigidity of the muscles
- Alterations in behaviour
Fact #3: Wilson illness also has the following indications and symptoms:
- A low amount of platelets or white blood cells
- A blood test can detect delayed blood clotting.
- In urine, there are significant quantities of amino acids, protein, uric acid, and carbs.
- Osteoporosis and arthritis in its early stages
Fact #4: Laboratory testing and physical examinations are used to diagnose Wilson disease:
Wilson disease is diagnosed using a combination of physical examinations and laboratory investigations. However, your doctor will first inquire about your family and personal medical history concerning Wilson disease, as well as any other disorders that may be producing symptoms.
- A doctor will search for visual evidence of Wilson disease during a physical examination, such as a Kayser-Fleisher ring around the eyes and any signs of liver damage, such as skin changes.
- liver or spleen discomfort
- abdominal swelling
Copper levels in the blood, urine, and liver tissue are measured in laboratory tests. One or more blood tests, such as those for copper, ceruloplasmin, liver enzymes alanine transaminase (ALT) and aspartate transaminase (AST), and red blood cells, may be ordered by your doctor. Doctors may request a blood test to check for the gene abnormalities that cause Wilson disease if other medical tests do not confirm or rule out a diagnosis of the disease.
Doctors will occasionally order a 24-hour urine collection. You will collect your urine in a special copper-free container at home for 24 hours. The amount of copper in your urine will be measured by your doctor. Wilson disease patients’ urine copper levels are frequently higher than usual.
Your doctor may perform a liver biopsy if the findings of the blood and urine tests don’t confirm or rule out a diagnosis of Wilson disease. A little amount of liver tissue is removed during this surgery. Under a microscope, a doctor will analyse the tissue for signs of specific liver disorders, check for liver damage and cirrhosis, and determine the amount of copper in the tissue.
Fact #5: Treatment plans differ from one patient to another:
Wilson illness can be managed with treatments, but there is currently no cure. Your stage of the disease determines the type of treatment you receive. Wilson disease is treated with chelating drugs such as penicillamine and trientine, which eliminate copper from the body, and zinc, which reduces copper absorption in the intestines. Copper-rich meals should also be avoided, according to the experts. Wilson disease therapies must be taken carefully because they can improve or avoid symptoms and organ damage. Acute liver failure can occur if you stop taking your medication.
Fact #6 Wilson illness runs in families; therefore, people with it are more likely to get it:
So if you have a first-degree relative with the disease, you’re more likely to get it. Wilson illness often manifests itself in people between the ages of 5 and 40. Doctors have discovered the earliest symptoms of Wilson illness in newborns as young as 9 months old and people as old as 70 years. Wilson disease is caused by mutations in the ATP7B gene, which is involved in transferring excess copper from the liver to the bile and eventually to the intestines for elimination. The ATP7B gene has been shown to contain over 300 distinct mutations.