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Wilson's disease is a rare inherited disorder in which copper accumulates in the liver, brain, and other vital organs. Wilson's disease is most commonly diagnosed between the ages of 5 and 35, but it can affect both children and adults.
Copper is essential for the growth of healthy nerves, bones, collagen, and the skin pigment melanin. Copper is normally absorbed from food, and excess is excreted via a substance produced in your liver (bile).
However, in people with Wilson's disease, copper is not properly eliminated and instead accumulates, potentially to a life-threatening level. Wilson's disease is treatable if detected early, and many people with the disorder live normal lives.
WHAT ARE THE SYMPTOMS OF WILSON'S DISEASE?
Wilson's disease is present at birth, but symptoms do not appear until copper accumulates in the brain, liver, or another organ. The signs and symptoms of the disease differ depending on which parts of your body are affected. They may include the following:
- Tiredness, a loss of appetite, or abdominal pain
- A yellowing of the skin and the whites of the eye (jaundice)
- Discoloration of the eyes in a golden-brown hue (Kayser-Fleischer rings)
- Fluid accumulation in the legs or abdomen
- Speech, swallowing, or physical coordination issues
- Muscle stiffness or uncontrolled movements
WHAT ARE THE CAUSES OF WILSON'S DISEASE?
Wilson's disease is inherited as an autosomal recessive trait, which means that you must inherit one copy of the defective gene from each parent in order to develop the disease. If you only have one abnormal gene, you will not become ill, but you will be a carrier and can pass the gene on to your children.
WHAT ARE THE RISK FACTORS OF WILSON'S DISEASE?
Wilson's disease is more likely to affect you if your parents or siblings have the condition. Ask your doctor if you should get genetic testing to see if you have Wilson's disease. Diagnosis of the condition as soon as possible improves the chances of successful treatment.
WHAT ARE THE COMPLICATIONS OF WILSON'S DISEASE?
Wilson's disease can be fatal if left untreated. The following are serious complications:
- Cirrhosis (scarring of the liver): Scar tissue forms in the liver as liver cells attempt to repair the damage caused by excess copper, making it more difficult for the liver to function.
- Liver failure: This can happen suddenly (acute liver failure) or gradually over time. A liver transplant could be an option for treatment.
- Neurological issues that persist: Tremors, involuntary muscle movements, clumsy gait, and speech difficulties typically improve with Wilson's disease treatment. However, some people continue to have neurological problems despite treatment.
- Kidney problems: Wilson's disease can cause kidney damage, resulting in problems such as kidney stones and an abnormal number of amino acids excreted in the urine.
- Psychological issues: Personality changes, depression, irritability, bipolar disorder, or psychosis are examples of such symptoms.
- Problems with the blood: These may include the destruction of red blood cells (hemolysis), which results in anemia and jaundice.
HOW IS WILSON'S DISEASE DIAGNOSED?
Wilson's disease can be difficult to diagnose because its signs and symptoms are often difficult to distinguish from those of other liver diseases, such as hepatitis. Symptoms can also change over time. Behavioral changes that appear gradually can be particularly difficult to attribute to Wilson's.
Doctors make diagnoses based on a combination of symptoms and test results. Wilson's disease is diagnosed using the following tests and procedures:
Urine and blood tests: Blood tests can monitor your liver function as well as the level of ceruloplasmin, a protein that binds copper in the blood, and the level of copper in your blood. Your doctor may also want to measure the amount of copper excreted in your urine over the course of a 24-hour period.
Eye exam: An ophthalmologist examines your eyes for Kayser-Fleischer rings, which are caused by excess copper in the eyes, using a microscope with a high-intensity light source (slit lamp). Wilson's disease is also linked to a type of cataract known as a sunflower cataract, which can be detected during an eye exam.
Taking a sample of liver tissue for analysis (biopsy): A thin needle is inserted through your skin into your liver, and a small sample of tissue is drawn. The tissue is examined in a laboratory for excess copper.
Genetic testing: Wilson's disease is caused by genetic mutations that can be identified through a blood test. Knowing your family's mutations allows doctors to screen siblings and begin treatment before symptoms appear.
WHAT ARE THE TREATMENTS FOR WILSON'S DISEASE?
Your doctor may advise you to take chelating agents, which bind copper and then stimulate your organs to release the copper into your bloodstream. Your kidneys then filter the copper, which is then excreted in your urine.
The treatment then focuses on preventing copper buildup in the future. A liver transplant may be required if the patient has severe liver damage.
Medications
If you take Wilson's disease medications, you will be on them for the rest of your life. Among the medications are:
- Penicillamine (Cuprimine, Depen): Penicillamine, a chelating agent, can have serious side effects such as skin and kidney problems, bone marrow suppression, and worsening of neurological symptoms. If you are allergic to penicillin, use penicillamine with caution. It also inhibits the absorption of vitamin B-6 (pyridoxine), so you'll need to take a supplement in small doses.
- Trientine (Syprine): Trientine works similarly to penicillamine but has fewer side effects. However, when taking trientine, neurological symptoms may worsen.
- Zinc acetate (Galzin): This medication prevents your body from absorbing copper from food. It is typically used as maintenance therapy to prevent copper buildup after penicillamine or trientine treatment.
If you are unable to take penicillamine or trientine, zinc acetate may be used as primary therapy. Zinc acetate has the potential to cause stomach upset.
Other medications for symptom relief may be suggested by your doctor.
Surgery
If your liver damage is severe, you may require a transplant. A surgeon removes your diseased liver and replaces it with a healthy liver from a donor during a liver transplant.
The majority of transplanted livers come from deceased donors. In some cases, however, a liver can be obtained from a living donor, such as a family member. In that case, your diseased liver is removed and replaced with a portion of the donor's liver.
Home remedies and lifestyle
If you have Wilson's disease, your doctor will most likely advise you to limit the amount of copper in your diet. If you have copper pipes in your home, you should have the copper levels in your tap water tested. Also, avoid multivitamins that contain copper.
Among the foods high in copper content are:
- Liver
- Shellfish
- Mushrooms
- Nuts
- Chocolate