WHAT IS WILSON'S DISEASE: AN UNDERSTANDING

What is Wilson’s disease? Understand in simple words It is caused because of mutation in the ATP7B gene, which codes for copper transportation. Hence it has to come through Your gene from either or both parents This mean that one of your parents has the condition or carries the gene.

·       Wilson’s disease is a rare genetic condition that causes copper poisoning in the body.

·       The symptoms of Wilson’s disease vary depending on in which organ copper deposit are building up.

·       Early diagnosis and treatment offer near normal life for people with Wilson’s disease.

Wilson’s disease, also known as hepatolenticular degeneration and progressive lenticular degeneration, is a rare genetic disorder that causes copper poisoning in the body. It affects about 1 in 30,000 people worldwide.

In a healthy body, the liver filters out excess copper and releases it through urine but in case of Wilson’s disease, the liver cannot remove the extra copper properly and then extra copper builds up in vital organs like brain, liver, and eyes.

Talk to your doctor if family has a history of Wilson’s disease exist,  to avoid liver failure, brain damage, or other life-threatening conditions However it is also seen Many people with these conditions live normal, healthy lives.

The signs and symptoms of Wilson’s disease

The signs and symptoms are quite different with each other , depending on which organ is affected. They can be mistaken for other diseases or conditions.

Liver-related

The following indicate copper accumulation in the liver:

• weakness
• feeling tired
• weight loss
• nausea
• vomiting
• loss of appetite
• itching
• jaundice, or yellowing of the skin
• edema, or the swelling of legs and abdomen
• pain or bloating in the abdomen
• spider angiomas, or visible branch-like blood vessels on the skin
• muscle cramps

Many of these symptoms, such as jaundice and edema, are the same for other conditions like liver and kidney failure hence only doctor after conducting multiple tests can confirm  is this a Wilson’ s disease or not .

Neurological

 In case of Copper accumulation in the brain symptoms are as under :-

• memory, speech, or vision impairment
• abnormal walking
• migraines
• drooling
• insomnia
• clumsiness with hands
• personality changes
• changes in mood
• depression
• problems in school

In the advanced stages, these symptoms may include muscle spasms, seizures, and muscle pain during movement.

Other symptoms

The buildup of copper in other organs can cause following :-

• bluish discoloration in the nails
• kidney stones
• premature osteoporosis, or lack of bone density
• arthritis
• menstrual irregularities
• low blood pressure 

Wilson’s disease may be difficult for doctors to initially diagnose. The symptoms are similar to other health issues like heavy metal poisoning, hepatitis C, and cerebral palsy. Hence doctor will ask about your symptoms and family’s medical history. They’ll also use a variety of tests to look for damage caused by copper accumulations if any .

During physical examination:-

• Examination of body
• Sounds in the abdomen
• Eyes test under a bright light for K-F rings or sunflower cataracts
• Tests of motor and memory skills

Lab tests

Blood tests, to analyze:-

• Abnormalities in your liver enzymes
• Copper levels in the blood
• Lower levels of ceruloplasmin, a protein that carries copper through the blood
• A mutated gene, also called genetic testing
• Low blood sugar

How is Wilson’s disease treated

Successful treatment of Wilson’s disease depends upon timing more than medication. Treatment often happens stages and will last for lifetime. If a person stops taking the medications, copper can build again.

First stage

The first  and best treatment is to remove excess copper from your body through chelating therapy. Chelating agents include drugs like d-penicillamine and trientine, or Syprine. These drugs will remove the extra copper from your organs and release it into the bloodstream. Your kidneys will then filter the copper into the urine.

Trientine has fewer reported side effects than d-penicillamine. Potential side effects d-penicillamine include:

• fever
• rash
• kidney issues
• bone marrow issues

Your doctor will provide lower dosages of chelating drugs if you’re pregnant, as they can cause birth defects. 

Second stage

The goal of second stage is to maintain normal levels of copper after removal. Your doctor may then prescribe zinc or tetrathiomolybdate if you’ve finished the first treatment or show no symptoms but have Wilson’s disease.

Zinc taken orally as salts or acetate (Galzin) keeps the body from absorbing copper from foods. You may have slight stomach upset from taking zinc. Children with Wilson’s disease but no symptoms may want to take zinc to prevent the condition from worsening or slow its progress.

Third stage

After the symptoms improve and your copper levels are normal, you’ll want to focus on long-term maintenance therapy. This includes continuing zinc or chelating therapy and regularly monitoring your copper levels.

You can also manage your copper levels by avoiding foods with high levels, such as:

• dried fruit
• liver
• mushrooms
• nuts
• shellfish
• chocolate
• multivitamins

You might want to check your water levels at home, too. There may be extra copper in your water if your home has copper pipes.

Medications can take anywhere from four to six months. If a person doesn’t respond to these treatments, they may require a liver transplant. A successful liver transplant can cure Wilson’s disease. The success rate for liver transplants is 85 percent after one year.