Wilson’s Disease Symptoms
Tendency to go pale; easy fatigability; suffer from aches and pains; anorexia (loss of appetite); nausea (feeling sick); vomiting; diarrhea (loose motions); loss of weight; mental depression, worrying & anxiety or sadness.
A variety of systems can be affected, including the gastrointestinal tract, nervous system, kidneys, and blood. Symptoms are related to what organs are involved. People with Wilson’s disease may have one or more of the following problems.
The signs and symptoms vary because they depend on which body parts are affected by this condition, which relies on the pattern of gene inheritance from parents. For example, suppose both parents carry a defective copy of the ATP7B gene responsible for this disorder. In that case, there is a 25% chance that each child will inherit two copies of the gene mutation (one from each parent) and thus develop Wilson’s disease.
Wilsons disease treatment:
Wilson disease is a rare inherited disorder that damages affected people’s liver, brain, eyes, and kidneys. A new study has shown that low doses of an approved asthma drug can slow this disease down by making toxic amounts of copper flush the body through the urinary system. Wilson’s disease treatment is effective in children with acute symptoms of the condition.
Symptoms of Wilsons Disease Treatment:
Some common symptoms are loss of coordination or clumsiness, difficulty walking on heels or toes, eye problems such as rapid involuntary movement called nystagmus (jerky movements), double vision, drooping eyelids, muscle wasting, and stiffness/contractures, psychiatric problems such as anxiety or depression, personality changes or lack of inhibition, tremors or shaking. If left untreated, Wilson’s Disease causes liver failure and death within 10-20 years of the onset of symptoms…
Wilsons disease treatment:
Treatment generally requires the life-long use of medications to remove excess copper from the body. Zinc acetate is available as a tablet that can be taken by mouth for mild to moderately severe cases.
Penicillamine (Cuprimine) is used; it works well but may cause side effects, including fever, rash, nausea, and joint pain. Since capsules containing D-penicillamine cannot be mixed with acidic fruit juices such as grapefruit juice, acerola cherry juice, or orange juice, these should be avoided for at least 6 hours before and after taking D-penicillamine. Wilson’s disease treatment is effective in children with acute symptoms of the condition.
Wilsons disease NHS:
The NHS provides a helpline, support groups, and information on resources to help people with this condition. The National Wilsons Disease Society is a voluntary UK-based organization that supports people affected by Wilson’s disease and funds research into the state. It also campaigns to raise awareness of the disease among professionals and the general public.
Wilsons disease treatment:
If you suspect someone has Wilson’s disease – mainly if symptoms are severe – see your GP as soon as possible. Your GP will ask about your symptoms and family history and may perform some tests to check for signs of liver or brain damage, including an eye examination, a blood test to measure the level of copper in the blood, taking a small sample (biopsy) of your liver, to check for damage.
Wilson disease life expectancy:
Most people with Wilson’s disease live an expected lifespan with access to appropriate treatment. If the condition is diagnosed and treated early, there are no long-term consequences. With optimal management, it’s expected that those with early onset of the disease will experience the same lifespan as those without.
Wilson’s disease causes:
The exact cause of Wilson’s disease is unknown, but a faulty gene inherited from both parents probably plays a role in causing this disorder. In most cases, the defective gene responsible for Wilson’s Disease is passed from parent to child through their genes – it doesn’t skip or mix generations, so if you have one affected parent, you have a 50% chance of being born with Wilson Disease.
Wilson’s disease diagnosis:
Wilson’s disease is diagnosed after a blood test to measure the level of copper and tests to rule out other conditions with similar symptoms, such as hepatitis. A liver biopsy – where a small amount of tissue is removed from the liver under local anesthetic to be examined in a laboratory – may also be needed to confirm the diagnosis.
This involves making an incision (cut) into your skin and inserting a unique instrument through the opening into your abdomen. It carries some risk of bleeding and infection, and you’ll need to stay in hospital overnight for observation. Wilson disease treatment has dramatically improved over recent years, enabling most people with this condition to live everyday lives. Surviving children rarely develop liver disease or mental impairment.
Wilsons disease inheritance:
Wilson’s disease is rare. It usually affects people who inherit two copies of the defective gene (one from each parent), known as autosomal recessive inheritance. The parents of someone with an autosomal recessive condition are carriers, which means they have one copy of the defective gene but don’t show signs and symptoms of the state.
Inheriting just one copy of the defective gene from one parent is enough to cause Wilson’s disease in a child if that child inherits a further bad copy from their other parent. This form of inheritance is known as autosomal dominant inheritance.
Wilson disease causes:
Wilson’s disease is a genetic disorder that causes the body to retain too much copper, often resulting in liver problems. It can also lead to neurological problems such as tremors or psychiatric and behavioral changes.
This condition is caused by a mutation (defect) in a gene called ATP7B, which tells the body how to regulate its stores of copper. This mutated gene leads to the buildup of copper in specific organs — most commonly, the liver — which can cause irreversible damage if not treated promptly.
Wilsons disease patient:
A person with Wilson’s disease cannot properly metabolize or excrete copper, which builds up their system. Over time, this buildup damages various tissues and organs throughout the body, especially in the liver, brain, and eyes.
Other symptoms may include:
copper buildup in the eyes and other parts of the eye, causing a variety of severe vision problems, including clouding of the cornea (the transparent front part of your eye), narrowing or complete blockage of the drainage channels that carry fluid out of the eye, inflammation or degeneration of nerve tissue in the retina (the light-sensitive lining at the back inside surface) called retinitis pigmentosa.
Overproduction and impaired elimination include excess production of red blood cells, which can lead to anemia overproduction and impaired elimination from body tissues such as bone marrow resulting in neutropenia which is a deficiency in white blood cells that can make you more susceptible to infections, jaundice – yellowing skin and eyes due to high levels of bilirubin, a yellow-colored chemical pigment released by the liver during the destruction of old red blood cells.