How Is Wilson's Disease Connected To Copper?

Did you know there is a genetic mutation that can cause copper toxicity?

Wilson's disease is caused by a mutation in the ATP7B gene, which is responsible for encoding a protein that plays a critical role in the regulation of copper in the body. Normally, copper is absorbed from food in the intestines and transported to the liver, where it is processed. The liver is responsible for incorporating copper into ceruloplasmin (a copper-carrying protein) and secreting it into bile, which allows excess copper to be excreted from the body. However, in Wilson's disease, the mutation in the ATP7B gene impairs the ability of the liver to incorporate copper into ceruloplasmin and properly excrete it into bile. As a result, copper accumulates within the liver cells, overwhelming the organ's capacity to detoxify it. Over time, this buildup of copper causes liver cell damage, inflammation, and fibrosis, eventually leading to cirrhosis or liver failure if untreated.

Beyond the liver, the excess copper is also deposited in other organs, most notably the brain (particularly the basal ganglia, which regulates movement), kidneys, and cornea of the eye. The copper deposits in the brain can cause neurological symptoms, such as tremors, difficulty with motor control, and cognitive changes, resembling movement disorders like Parkinson's disease. In the eye, copper buildup results in a characteristic Kayser-Fleischer ring, a golden-brown ring that appears around the iris, visible upon examination. The accumulation of copper in these organs causes progressive damage, and if left untreated, the disorder can lead to severe physical, neurological, and psychiatric symptoms.

The disease is inherited in an autosomal recessive manner, meaning that both parents must carry the gene for the disease for it to be passed on to their child.

The symptoms of Wilson's disease can vary widely depending on the organs affected, but they typically appear between the ages of 5 and 35. The disease's progression is often gradual, and symptoms may be subtle in the early stages. They can be divided into three main categories: liver-related, neurological, and psychiatric symptoms.

1. Liver-related symptoms:

• Jaundice: Yellowing of the skin and eyes due to liver dysfunction.
  
  

• Fatigue: General feeling of tiredness or weakness.
  
  

• Abdominal pain: Often in the upper right side due to liver enlargement or inflammation.
  
  

• Swelling (ascites): Fluid buildup in the abdomen caused by liver failure.
  
  

• Liver failure or cirrhosis: As the disease progresses, it can lead to scarring of the liver tissue, which can cause liver failure and complications such as bleeding, fluid retention, and liver cancer.
  
  

2. Neurological symptoms:

• Tremors: Involuntary shaking, usually affecting the hands, but can involve other parts of the body.
  
  

• Dystonia: Abnormal muscle contractions leading to twisting or repetitive movements, or abnormal postures.
  
  

• Difficulty with speech: Slurred or difficult-to-understand speech.
  
  

• Motor difficulties: Problems with coordination, walking, and balance, resembling Parkinson’s disease.
  
  

• Rigidity or stiffness: Muscle tightness that limits movement.
  
  

• Involuntary movements: Such as tics, tremors, or jerky motions.
  
  

• Cognitive decline: Problems with memory, concentration, and reasoning.
  
  

3. Psychiatric symptoms:

• Personality changes: Irritability, mood swings, and altered behavior.
  
  

• Depression: Feelings of sadness, hopelessness, or loss of interest in activities.
  
  

• Anxiety: Feelings of nervousness or tension.
  
  

• Psychosis: In rare cases, individuals with Wilson's disease may experience hallucinations or delusions.
  
  

• Impulsivity or aggression: Sudden outbursts of anger or risky behavior.
  
  

4. Eye symptoms:

• Kayser-Fleischer rings: These are copper deposits that appear as a golden-brown or greenish ring around the iris of the eye, visible during an eye examination. They are a hallmark of Wilson's disease, although not all individuals with the condition will develop them.
  
  

The severity of symptoms can vary from person to person. In some cases, symptoms might start with psychiatric or neurological problems, and the liver symptoms may not appear until later. This can make Wilson's disease difficult to diagnose, especially when the symptoms are mistaken for other disorders.

The treatment for Wilson's disease focuses on removing excess copper from the body and preventing further copper buildup. The approach usually involves lifelong management with medications, a careful diet, and regular monitoring to minimize damage to vital organs such as the liver, brain, and kidneys. The two main types of treatment are chelating agents and zinc therapy, along with lifestyle changes.

1. Chelating agents:

These medications help to bind and remove excess copper from the body. They are often the first line of treatment, especially for individuals who already have copper buildup in their organs. Common chelating agents include:

• Penicillamine: This is one of the most commonly used chelating agents. It binds to copper and helps the body excrete it through urine. However, it can have side effects like rash, fever, or kidney issues.
  
  

• Trientine: This is an alternative to penicillamine and works similarly to remove copper. It is often prescribed if a person cannot tolerate penicillamine.
  
  

2. Zinc therapy:

• Zinc acetate or zinc gluconate: Zinc prevents the absorption of copper from the digestive tract. By inhibiting copper absorption, zinc helps to limit the amount of copper that enters the body. Zinc therapy is typically used for individuals in the early stages of Wilson's disease or for those with more stable conditions, and it's often used as a maintenance treatment after the initial chelation therapy. You can consider using our Upgraded Zinc for this too since we have an absorption rate of 99%!
  
  

3. Dietary changes:

While treatment with medications is the primary approach, dietary changes are also recommended to reduce copper intake. This usually involves:

• Avoiding copper-rich foods such as shellfish, organ meats (liver, kidney), nuts, seeds, chocolate, and mushrooms.
  
  

• Limiting vitamin and mineral supplements that might contain copper.
  
  

4. Liver transplantation:

In cases where liver damage is severe, such as when cirrhosis or liver failure has occurred, a liver transplant may be necessary. This can significantly improve quality of life and extend lifespan if the liver is beyond repair.

Also, you can always verify to see if you're copper toxic by running a Hair Tissue Mineral Analysis (HTMA) by clicking the link here.

If you have any of the symptoms listed above and can’t seem to get to the bottom of your ailments, definitely test and don’t guess!