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Wilson's Disease in Mukundapur, Kolkata

Wilson's Disease Clinic

Wilson's Disease Treatment in Mukundapur

Wilson's Disease is an uncommon genetic condition that results in an accumulation of copper in many organs, primarily the liver, brain, and eyes. Wilson's disease clinics specialise in the diagnosis, treatment, and management of Wilson's disease. The majority of Wilson's disease patients receive their diagnosis between the ages of five and thirty-five. However, individuals of all ages may also be impacted. The Wilson Disease Clinic at Manipal Hospitals, Mukundapur, provides a full range of services, such as consultations with specialists in neurology and hepatology, Physical and Cognitive Rehabilitation, Psychotherapy, Speech Therapy, and Gait Training. Given that Wilson's disease runs in families, we also provide Genetic Counselling, Sibling Screening, and Family Therapy. Wilson's Disease Clinics facility play a crucial role in enhancing the well-being and overall quality of life of individuals with this rare disorder through their specialised care and expertise.

FAQ's

Mutations in the ATP7B gene, which facilitates the production of a protein that aids in the body's copper transportation, contribute ‌to Wilson's disease. As a consequence of Wilson’s disease, copper builds up in the bile due to the liver's inability to discharge it due to a faulty ATP7B gene. Since Wilson's illness is an autosomal recessive condition, the defective gene must be inherited in two copies, one from each parent, for a person to be affected.

Wilson's illness is present from birth, but symptoms don't appear until copper builds up in the liver, brain, eyes, or another organ. The symptoms you experience depend on which body parts are impacted by the illness. Among these symptoms are the following:

  • Fatigue and appetite decline
  • Jaundice
  • Kayser-Fleischer rings are the golden-brown or copper-coloured bands that encircle the eye's irises
  • Accumulation of fluid in the stomach or legs
  • Issues concerning swallowing, speaking, or coordination
  • Experiencing difficulty going to sleep and remaining asleep
  • Involuntary movements or rigidity in muscles

The Wilson Disease Clinic offers specialised care for these curable metabolic conditions. Early diagnosis is essential for improved care and results for patients and their siblings. The Wilson Disease Clinic has the following amenities:

  • Diagnostic guidance
  • Screening of siblings
  • Patient and family counselling
  • Dietary guidance
  • Resources for patients and their families

Wilson's disease can be diagnosed using several straightforward tests. These examinations may consist of the following:

  • Examining for Kayser-Fleischer rings using an optical slit lamp.
  • Test for serum ceruloplasmin.
  • 24-hour copper test in the urine.
  • Liver biopsy for copper measurement, histopathology, and histochemistry.
  • Genetic testing, sibling haplotype analysis, and mutation analysis.

Wilson disease patients may give the impression that they are in perfect health. 

Given that Wilson's disease can cause significant liver damage even in the absence of symptoms, it is critical to diagnose the condition as soon as possible.

It is recommended to screen for Wilson disease in all siblings and offspring of patients with the illness. Other relatives who have experienced symptoms or laboratory results indicating neurological, mental, or hepatic disease should also investigate Wilson's illness. The same laboratory and imaging procedures used to identify WD may be used for this screening, or genetic testing may be employed. On the other hand, there are already over 700 known mutations in the ATB7B gene that can cause Wilson disease, and more are being found regularly. Therefore, a negative genetic test result does not always rule out WD.

The most effective way to arrange genetic testing is to work with a genetic counsellor, who can thoroughly go over the advantages, drawbacks, and implications of each testing strategy.

Your doctor may advise you to avoid foods high in copper when you begin therapy for Wilson's disease, such as shellfish, almonds, mushrooms, and chocolate.

  • Copper concentration in food varies according to geography, processing techniques, and soil conditions. High-copper foods such as organ meats, shellfish, whole wheat, legumes, and chocolate with a lot of cocoa are restricted for a patient with Wilson’s disease.

  • Examine the amounts of copper in the drinking water; if more than 100 micrograms/L, use bottled demineralised water (less than 1 microgram/L).

  • Wilson's disease can cause liver damage, so stay away from alcohol to prevent further progression.

  • Check the copper content of food labels, particularly those for supplements.

  • Choose moderate serving portions to limit your consumption of copper.

  • Avoid cooking in any copper cookware.

For individualised nutritional advice and supervision, speak with a licenced dietician.

Wilson's illness is fatal if left untreated. Early identification is crucial because the longer the copper poisoning lasts, the more difficult it is to treat. The treatment's objectives are to lower the body's copper levels and manage the symptoms. Stopping the medication could result in death within a few months. Possible choices could be:

  • Chelation Therapy, which uses drugs (like penicillamine) that bind to copper and allow it to be expelled in the urine

  • Vitamin B6 to support the nervous system

  • Potassium Supplements, taken before meals, reduce the absorption of dietary copper

  • Zinc Therapy is used to stop the small intestine from absorbing copper

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