Wilson's Disease Causes, Symptoms, Diagnosis, Treatment, Prevention, Home Remedies

Wilson's Disease Causes, Symptoms, Diagnosis, Treatment, Prevention, Home Remedies

What is Wilson's disease?

Wilson's disease is a condition where too much copper builds up in the body. It is a rare inherited disorder that affects about 1 in 30,000 people. It is named after Dr Samuel Wilson who first described the disorder in 1912.

If you inherit the genetic fault in Wilson's disease, your body is not able to get rid of copper. Copper is a trace metal which is in many foods. You need tiny amounts of copper to remain healthy. Normally, the body gets rid of any excess copper. People with Wilson's disease cannot get rid of excess copper and so it builds up in the body, mainly in the liver, the brain, the cornea (the layer at the front of your eye) and kidneys.

Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and any excess is excreted through bile — a substance produced in your liver.

But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. Left untreated, Wilson's disease is fatal. When diagnosed early, Wilson's disease is treatable, and many people with the disorder live normal lives.

Wilson’s disease causes and risk factors

Wilson’s disease is a bit less prevalent in females – who tend to present with hepatic failure; males are more likely to exhibit neurological symptoms.

Many foods contain copper. Because of a mutation of chromosome 13 – which affects ATP7B, the protein that helps transport copper into the bile and, eventually, out of the body – people who have Wilson’s disease cannot excrete copper from the liver properly. It builds up in the liver, sometimes causing irreversible damage, and then, when the liver’s capacity to store copper is exceeded, the mineral is released into the bloodstream where it can damage the brain, eyes, joints, and kidneys.

The majority of ATP7B mutations are passed from one generation to the next. People who develop Wilson’s disease inherit two defective copies of the ATP7B gene, one from each parent. If both parents are carriers of one abnormal Wilson's gene, they have a twenty-five percent chance of having a child with two normal genes; a fifty percent chance of having a child who also is a carrier; and a twenty-five percent chance of having a child with two recessive genes who will develop the disease. Wilson’s disease carriers, who have only one copy of the defective gene, won't become ill or exhibit symptoms, but as a carrier they can pass the gene onto their children.

How is Wilson's disease inherited?

Wilson's disease is an autosomal recessive disorder. This means that, in order to develop Wilson's disease, you need to inherit two abnormal ATP7B genes - one from your mother and one from your father.

If you inherit only one abnormal gene, you are called a carrier. Carriers do not have the disorder, as they have one normal gene which is enough to control the function of copper in the body. However, carriers can pass the abnormal gene on to their children. About 1 in 100 people are carriers of the ATP7B gene. When two people who carry the abnormal gene have a child, there is a:

  • 1 in 4 chance that the child will have Wilson's disease (by inheriting the abnormal ATP7B gene from both parents).
  • 2 in 4 chance that the child will not have Wilson's disease, but will be a carrier (by inheriting the abnormal ATP7B gene from one parent but the normal gene form the other parent).
  • 1 in 4 chance that the child will not have Wilson's disease, and will not be a carrier (by inheriting the normal gene from both parents).

What are the symptoms and problems of Wilson's disease?

Although the genetic defect is present at birth, it takes years for copper to build up to the level where it is damaging. Symptoms typically start to develop between the ages of 6 and 20, most commonly in the teenage years. However, you can first develop symptoms in middle age.

Liver problems

Symptoms of liver problems often develop first. The toxic effect on the liver cells can cause hepatitis (inflammation of the liver) which may cause jaundice, abdominal pain and vomiting. If left untreated, damage to liver cells causes scarring of the liver (cirrhosis). Eventually, severe cirrhosis and liver failure develop in untreated cases, causing severe problems.

(Note: there are various causes of cirrhosis. Wilson's disease is a very rare cause of cirrhosis.)

Brain problems

As copper deposits in the brain it can cause various symptoms:

  • Physical symptoms such as an odd type of tremor in the arms, slowness of movement, difficulty with speech, writing problems, difficulty swallowing, an unsteady walk, headaches, seizures.
  • Psychological symptoms such as depression, mood swings, inability to concentrate. Affected people may become very argumentative and emotional and may seem to have a change in personality.
  • If left untreated, the accumulation of copper in the brain can lead to severe problems such as severe muscular weakness, severe rigidity, and dementia.

Other problems

Copper may build up in the cornea of the eye. This causes a characteristic feature called Kayser-Fleischer rings - a brownish pigmentation of the cornea. 

Other features that may develop include anaemia, kidney damage, heart problems, pancreatitis (inflamed pancreas), menstrual problems and repeated miscarriage in women, and premature osteoporosis (thinning of the bones).

When to see a doctor

Make an appointment with your doctor if you have any signs and symptoms that worry you.

If a family member has been diagnosed with Wilson's disease, tell your doctor at your next appointment. Your doctor may recommend tests to determine whether you may have Wilson's disease.

Diagnosis for Wilson's Disease

The variety of symptoms and the rarity of the disease make diagnosis of Wilson’s disease difficult. Your doctor will use a variety of laboratory tests and radiological imaging to aid in diagnosis by uncovering damage caused by copper accumulations.

Magnetic Resonance Imaging (MRI) may show:

  • damage to the brain
  • damage of the liver
  • weakening of the brain stem signals

Laboratory tests include:

  • testing blood sugar for hypoglycemia
  • testing for blood levels of ceruloplasmin (a copper-containing protein)
  • urine testing for presence of copper

Other tests include:

  • Rey’s Auditory Verbal Learning (memory, learning, etc.) test to measure motor defects
  • liver biopsy for copper accumulation
  • genetic test for mutation responsible
  • checking for presence of Kayser-Fleischer corneal ring (a brownish-yellow ring around the cornea of the eye)

Treatments and drugs for Wilson's Disease

If you've been diagnosed with Wilson's disease, your doctor may recommend medications to reduce the amount of copper in your body. Once that is achieved, treatment focuses on preventing copper from building up again. When liver damage is severe, a liver transplant may be necessary.

Medications that remove excess copper from your body

Medications called chelating agents prompt your organs to release copper into your bloodstream. The copper is then filtered by your kidneys and released into your urine.

Treatment for people with signs and symptoms of Wilson's disease usually begins with a chelating agent. Once your signs and symptoms are under control, your doctor may recommend a lower dose of medication to maintain a safe level of copper in your body.

Doctors sometimes also recommend chelating agents to people who've been diagnosed with Wilson's disease but don't have signs and symptoms. For these people, a chelating agent can reduce the risk of liver damage.

Side effects of chelating agents depend on the specific medication:

  • Penicillamine (Cuprimine, Depen). Penicillamine can cause serious side effects, including skin problems, bone marrow suppression, worsening of neurological symptoms and birth defects.
  • Trientine (Syprine). Trientine works much like penicillamine but tends to cause fewer side effects. Still, there is a risk that neurological symptoms can worsen when taking trientine, though it's thought to be a lower risk than is penicillamine.

Medication to maintain healthy copper levels

Zinc acetate prevents your body from absorbing copper from the food you eat. Zinc is sometimes used in people who've had successful treatment with a chelating agent. In these people, zinc may help maintain a healthy copper level. Zinc is also used in people who've been diagnosed with Wilson's disease but don't have any signs or symptoms.

Zinc acetate causes few side effects but can cause upset stomach.

Liver transplant 

For people with severe liver damage, a liver transplant may be necessary. During a liver transplant, a surgeon removes your diseased liver and replaces it with a healthy liver from a donor. Most transplanted livers come from donors who have died. But in some cases a liver can come from a living donor, such as a family member. In that case, the surgeon removes your diseased liver and replaces it with a portion of your family member's liver.

Diet for Wilson's Disease

Foods with a high concentration of copper generally should be avoided, at least in the first year of treatment when the excess copper is being cleared from the body. These include: liver, chocolate, nuts, Avocados, mushrooms, legumes and shellfish, especially lobster.

How to Prevent Wilson's Disease?

Currently, there are no guidelines to prevent Wilson's disease. However, when identified early, treatment can prevent the development of symptoms.

Home Remedies for Wilson's Disease

Doctors sometimes recommend limiting the amount of copper you consume in your diet during the first year of your treatment for Wilson's disease. As your signs and symptoms recede and the copper levels in your body drop, you may be able to include copper-containing foods in your diet.

Have your tap water's copper levels tested if you have copper pipes in your home or if your water comes from a well. Most municipal water systems don't contain high levels of copper. If you have copper pipes, run the tap for several seconds before collecting water for drinking or cooking. Water that sits in the copper pipes can pick up copper particles. Running the water flushes that contaminated water out of the pipes.

What is the prognosis (outlook)?

The prognosis for untreated Wilson’s disease is grim. Over time, copper builds up to toxic levels. Then, the liver fails and permanent brain damage occurs.

Early treatment can help reverse neurological issues and liver damage. Treatment in a later stage cannot always restore the damage but may prevent further progress of the disease. Patients may suffer from mental difficulties like memory problems for the duration of their life.