Wilson Disease

Who needs to be tested for Wilson Disease?

Any child or young adult with the following problems needs to be evaluated for Wilson Disease:

• Difficulty in speaking
• Change in handwriting
• Shaking or clumsiness of hand/body
• Difficulty in walking
• Dropping grades at school
• Depression
• Aggressive/unruly behaviour
• Hypersexuality
• Abnormal liver test report
• Unexplained jaundice (yellowing of eyes/skin)
• Repeated jaundice
• Anaemia
• Back pain or deformity
• Joint pain and swelling
• Unexplained fracture
• Death in the family from severe liver failure or neurological problems

All brothers and sisters of a person with Wilson Disease need to be tested, even if they are normal.

How is Wilson Disease diagnosed?

Wilson Disease can be diagnosed based on a careful clinical evaluation by a neurologist or hepatologist (liver doctor) familiar with the disease and specialised tests like lab test, MRI and liver biopsy.

Is Wilson Disease treatable?

YES, it is treatable. With timely diagnosis and treatment people with Wilson Disease can lead a normal life. Children return to normal education and excel. Even people with severe disability improve and resume school/work.

Treatment involves avoiding food rich in copper and taking drugs to eliminate excess copper (decoppering drugs). People with symptoms as well as those who do not have any symptoms need treatment. Treatment is lifelong. It is essential that treatment be tailored to an individual patient.

Wilson's Disease clinic

Kokilaben Hospital is proud to introduce a comprehensive clinic that is devoted to treatment and care of people with Wilson Disease and their families. The aim of the Wilson Disease Clinic is to ensure that no person in India goes undiagnosed or untreated.

The Wilson Disease Clinic offers a comprehensive care program including neurology and liver specialist consultation, physical and cognitive rehabilitation, psychotherapy, speech therapy and gait training. Since Wilson Disease is a familial disease we also offer family counselling services, screening of siblings and genetic counselling.

Specialised tests like serum ceruloplasmin, 24 hour urine copper and liver copper estimations are available. The hospital also offers facility of mailing-in of samples to support centres that do not have these test facilities.

This is useful to assess the extent of brain and liver injury from excessive copper deposition.

In some people, diagnosis of Wilson disease requires a procedure called a liver biopsy, wherein, a thin needle is inserted through the skin & into the liver under ultrasound guidance (USG) and a small sample of liver tissue is drawn out. This sample is then sent to the laboratory to test for excess copper.

This is a part of the hepatology (liver) department and provides specialised treatment for patients with severe liver failure or cirrhosis.

It offers comprehensive eye check including examination through microscope with high intensity light source (slit lamp) and special eye camera photography to identify copper deposits in the eye. These are useful to diagnose as well as to monitor people with Wilson Disease.

Kokilaben Hospital has dedicated 30,000 sq ft of floor area equipped with cutting edge equipment to provide personalised & goal directed physiotherapy, speech therapy and gait retraining. Our specialised physical and cognitive occupational rehabilitation program ensures that patients return to normal life as soon as possible.

The Wilson Disease Clinic provides extensive patient as well as caregiver support, counselling and education services. We believe that a better understanding of the disease paves way for early diagnosis, appropriate and timely treatment, improved compliance and better doctor patient interaction.

Kokilaben Hospital offers genetic counselling services to patients with Wilson disease to assess risk of passing the disease to their children.

A blood test called DNA Analysis can identify the genetic defects that cause Wilson Disease. This test is available at a limited number of medical centres and is done using a small sample of blood drawn from a person's arm or collected from a finger prick. This test can be useful in diagnosing Wilson Disease.

People with Wilson Disease can develop serious complications if they contact liver infection (hepatitis). To prevent likelihood of developing liver infection the Wilson Disease Clinic offers vaccination for Hepatitis A & B to all persons with Wilson Disease as well as their brothers and sisters.

Kokilaben Hospital offers the facility of mailing-in samples for serum ceruloplasmin, 24 urine copper, liver copper and genetic analysis.

Kokilaben Hospital is devoted to and brings the best in medical care at convenient & affordable packages.

Package 1: Diagnosis
This package includes consultations with Wilson Disease experts (Dr. Annu Aggarwal, Dr. Mohit Bhatt and Dr. Geeta Billa) and an array of tests to confirm diagnosis of Wilson Disease in a person.

• Complete blood count
• Liver function test
• Serum ceruloplasmin
• 24 hour urine copper
• Ultrasound of abdomen and pelvis

Package 2: Sisters & brothers screening
This package is designed to screen sisters & brothers of patients with Wilson Disease. It includes consultations with Dr. Annu Aggarwal and Dr. Mohit Bhatt.

• Eye check up & slit lamp examination for Kayser-Fleischer rings
• Complete blood count
• Liver function test
• Serum ceruloplasmin
• 24 hour urine copper
• Ultrasound of abdomen and pelvis

Package 3: Rehabilitation
This package is designed to fine tune treatment and rehabilitate persons with Wilson Disease. It includes consultation with Dr. Annu Aggarwal and Dr. Mohit Bhatt.

• Consultation with dietician Dr. Geeta Billa, for low copper diet
• Physiotherapy session
• Speech therapy session

Package 4: Follow up
This package is designed to monitor disease progression & treatment adequacy in patients on treatment. It includes consultation with Dr. Annu Aggarwal and Dr. Mohit Bhatt.

• Haemoglobin
• Platelets
• SGPT

Milestones of the Wilson Disease Clinic
The Wilson Disease Clinic at Kokilaben Hospital is committed to support patients with Wilson Disease and their families, increase public awareness of the disease and encourage research in the field.
The clinic supports physicians and centres involved in care of patients with Wilson Disease within India as well as in the Indian subcontinent (Pakistan, Bangladesh and Sri Lanka), Australia & China.
The clinic has made important scientific contribution to the understanding of Wilson Disease and management of people with the disease, including:

• Developing a new paradigm to diagnose Wilson Disease, preferably without liver biopsy
• A clinical scale, the Global Assessment Scale for Wilson Disease (GAS for WD) to monitor disease progression, compliance and treatment adequacy
• Grading system to evaluate waxing and waning of Kayser-Fleischer rings with disease progression and treatment
• Understanding the profile of bone and joint involvement in people with Wilson Disease

The research results have been published in leading international medical & neurological journals.

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