Understanding Wilson’s disease, a Rare Genetic Disorder

Given its rarity Wilson disease diagnosis is often delayed on average by 2 years, and up to a decade, around the world.?

Rare Disease Day is observed on February 28 every year to raise awareness about the challenges faced by individuals living with rare diseases. The WHO defines a rare disease as a disease or disorder with a prevalence of 1 or less, per 1000 population. Wilson’s disease is one such rare disorder that affects an estimated one in every 30,000 people worldwide.

Wilson’s disease – a rare genetic disorder

In Wilson’s disease, the body’s ability to metabolize copper is affected, leading to copper accumulation in vital organs such as the liver, brain, and eyes. Wilson’s disease is a lifelong condition, but early diagnosis and treatment can significantly improve the patient’s quality of life.

It is a genetic disorder and both parents must carry the defective gene for their child to inherit the disease. Wilson’s disease is caused by mutations in the ATP7B gene, which is responsible for transporting copper out of the liver and into the bile ducts for excretion. In Wilson’s disease, this process is impaired, leading to copper accumulation in vital organs such as the liver, brain, and eyes.

Diagnosing Wilson’s disease

Early diagnosis and treatment are crucial for managing Wilson’s disease and preventing complications. However, diagnosing Wilson’s disease can be challenging because the symptoms can be nonspecific and mimic other liver or neurological disorders. Diagnosis typically involves a combination of clinical symptoms, neurological exam, liver-related tests, and brain scan. Blood tests can measure the amount of copper in the blood and ceruloplasmin, a protein that binds to copper. In a few patients a liver biopsy may also be done to determine the amount of copper in the liver. Genetic testing can confirm the diagnosis and identify carriers of the disease.

Symptoms of Wilson’s disease

The symptoms of Wilson’s disease can vary widely, and early diagnosis can be challenging. The symptoms depend on the severity of the disease and the age at which it first presents itself. Common symptoms include fatigue, jaundice, abdominal pain, and tremors. In some cases, Wilson’s disease can cause psychiatric symptoms such as depression, anxiety, and personality changes. If left untreated, Wilson’s disease can lead to liver failure, neurological problems, and even death.

Treating and managing Wilson’s disease

The goal of treatment for Wilson’s disease is to reduce the amount of copper in the body and prevent further copper accumulation. It is important to work closely with your doctor to develop a personalized treatment plan that addresses your specific needs.

Treatment typically involves taking medication that chelates copper and increases its excretion from the body, such as D-penicillamine, trientine, or zinc acetate. In severe cases, liver transplantation may be necessary to replace the damaged liver with a healthy one.

In addition to medical treatment, several coping strategies can help individuals with Wilson’s disease manage their symptoms and improve their quality of life. Patients with Wilson’s disease should follow a healthy diet and avoid foods that are high in copper, such as liver and shellfish. They should also avoid supplements that contain copper, such as multivitamins and mineral supplements.

It is estimated that a neurologist in their life time of practise would see 2 patients with Wilson disease. Therefore, becoming familiar with diagnosis and treatment becomes challenging, specially, as is true of other rare diseases too (of which there are 7000), study of these diseases in detail is not a part of core medical curricula.

Given its rarity Wilson disease diagnosis is often delayed on average by 2 years, and up to a decade, around the world. It is estimated that 75% of patients die due to misdiagnosis and under treatment. Further, as is true of all rare diseases, not many doctors including specialists are familiar with diagnosing and treating them, it is advised to visit to the leading tertiary care hospitals with a multi-disciplinary approach and full time dedicated doctors are equipped to treat such rare disease.

Living with Wilson’s disease

While living with a rare disease can be challenging, most individuals with Wilson’s disease can lead a healthy and fulfilling life with proper treatment and management. Periodic follow-ups with your doctor with regular monitoring of liver function and copper levels are necessary to ensure that the disease is being effectively managed. Regular exercise, practising stress-reduction techniques such as meditation and yoga, and staying connected with friends and family is also important.

Today, there are many exciting developments in the diagnosis and treatment of Wilson’s disease. Most medicines being used for treatment are available in India. Even patients with severe disabilities can improve, resume schooling or work, and lead a normal life. Early diagnosis and individualised management of the multi-systemic facets of the disease is key to treating this grave but treatable disease. With proper treatment, recovery from Wilson’s disease is dramatic and it is heartening to see young adults lead normal work, social and family lives!

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