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The Wilson Disease Clinic specialises in treating Wilson's disease, a rare genetic disorder where copper accumulates in the body, affecting organs like the liver, brain, or eyes. Symptoms can range from fatigue and jaundice to tremors and psychiatric issues. Diagnosis involves blood and urine tests, as well as genetic testing. Treatment aims to reduce copper levels with medications that bind to copper and remove it through urine. In severe cases, a Liver Transplant may be needed.
With early detection and proper treatment, many people with Wilson's disease can lead normal lives. Without treatment, it can lead to serious complications, like liver failure or neurological damage. Regular checkups and following your doctor's advice are essential for managing the condition effectively.
Consult the specialists at our Wilson's Disease Clinic in Kolkata for treatment and care.
Find specialized Wilson's Disease care at Manipal Hospitals, Kolkata. Get expert treatment for improved health conditions. Book your consultation now.
Parents can transmit Wilson's illness to their offspring. Each parent must have a copy of the faulty gene. Because parents frequently do not exhibit any symptoms to alert them to their aberrant gene-carrying status, it is difficult to predict who will be affected. You run a higher risk if you have additional close relatives who have the illness.
Wilson's Disease symptoms can vary, but common signs include:
Fatigue.
Decreased appetite.
Yellowing of the skin and the whites of the eyes (jaundice)
Golden-brown or copper-coloured bands that encircle the eye's irises (Kayser-Fleischer rings).
Accumulation of fluid in the stomach or legs.
Difficulties swallowing, speaking, or moving physically coordinated.
Depression, shifts in mood, and modifications in personality.
Experiencing difficulty going to sleep.
Involuntary motions or rigidity in muscles.
Wilson disease is brought on by changes occurring in the ATP7B gene. This gene is in charge of flushing out excess copper from your body.
Normally, the liver excretes excess copper into bile, a fluid stored in the gallbladder to aid digestion. Wilson disease causes your liver to excrete less copper into your bile, allowing the excess copper to remain in your body.
Wilson’s Disease can have potentially fatal consequences if it is not identified and treated on time. You may have a risk of suffering organ damage when your body accumulates toxic levels of copper, particularly in the liver and brain. Elevated copper levels will impact your mood, frequently causing extreme fatigue, weakness, and discomfort or pain. Consult your healthcare practitioner for advice if you experience weakness, fatigue, or persistent pain.
To determine whether Wilson's Disease could cause your symptoms, your healthcare professional will inquire about your personal and family medical histories.
Your doctors will check you for any further symptoms indicating you have issues with your liver, brain, or eyes.
Your doctor will do a slit-lamp exam, which uses a special light to check your eyes for Kayser-Fleischer rings, during an eye exam.
Your healthcare professional will want to perform blood and urine testing if they suspect Wilson's Disease.
A Wilson disease diagnosis involves a healthcare provider examining a patient's family and medical history for liver, brain, and eye problems. If suspected, blood and urine tests are also conducted.
Wilson's disease is diagnosed by liver biopsy, genetic testing, urine testing, or blood testing.
Blood tests: Numerous components in your blood can be examined by blood tests, such as:
Ceruloplasmin: The bloodstream's carrier of copper is a protein called ceruloplasmin. Low levels of ceruloplasmin are common in patients with Wilson’s disease.
Copper: Blood copper levels in Wilson disease patients may be higher or lower than usual.
Aspartate and alanine transaminases (ALT and AST): When there is liver injury, the liver enzymes ALT and AST are elevated.
Red blood cells: Wilson disease patients may have anaemia or decreased red blood cell numbers.
24-hour urine test: Your healthcare physician will provide you with a specific copper-free container to collect urine at home for a full day. The amount of copper in your urine will be measured in a lab. Wilson disease patients have higher-than-normal urinary copper levels.
Liver Biopsy: A liver biopsy is a procedure where a small sample of liver tissue is taken from the patient, examined under a microscope to identify features of specific liver diseases and the amount of copper in the tissue is checked.
Imaging tests: Your healthcare provider may use imaging tests to look for indications of Wilson disease or other brain diseases if you have nervous system symptoms. These procedures may include MRI, X-ray, and CT scan.
The facilities at the Wilson Disease Clinic include
Diagnosis
Counselling
Sibling screening
Dietary advice
Patient and family resources
Wilson disease is a condition characterised by the accumulation of toxic levels of copper in the body. Treatment involves lowering these levels using chelating agents, such as penicillamine and tetrathiomolybdate, which remove excess copper. Zinc is also prescribed to prevent the intestines from absorbing copper, and a low-copper diet is recommended. These treatments are lifelong, and stopping them may lead to acute liver failure. Regular blood and urine tests are conducted to monitor the effectiveness of the treatment. Zinc may also be prescribed as a maintenance treatment after chelating agents have removed excess copper.
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