Understanding Wilson disease
The disease is present at birth but manifests only after copper builds up in organs
Eyes. PHOTO: AFP
A rare hereditary disorder, Wilson disease, causes the accumulation of copper in the liver, brain, corneas and other vital organs. It is diagnosed between the ages of five and 25 and if diagnosed early, it is treatable.
Despite a number of diagnoses, the official data for Wilson’s disease in Pakistan remains unavailable.
Medical professionals continue to treat patients but Pakistan lacks expertise, specialised physicians and a team comprising haematologists, neurologists, psychiatrists, paediatricians, dieticians, ophthalmologists – essential for treatment. This has resulted in many losing the battle to Wilson disease.
In Pakistan, the Welfare Organisation for Wilson Disease (WOWD) educates, supports and treats patients. The president, Irfana Jabeen Khan, is also a member of the Wilson Disease Association in the United States.
Know your symptoms: Copper is essential for your body, but too much could end up killing you
The treatment for the disease requires lifelong therapies including oral, physio and speech – depending on the patient’s symptoms and condition. For treatment, the approved drugs include D-Penicillamine (vitamin) and Trientine.
Although copper is important for the development of healthy nerves, bones, collagen and melanin, an excess is poisonous for the body and can damage the liver, brain, eyes and other organs. The genetic defect prevents the liver from metabolisation and removing unnecessary amounts of copper.
The bodies of people with Wilson disease are unable to eliminate excess copper hence it accumulates, possibly, to life-threatening levels.
The disease is present at birth but manifests only after copper builds up in organs.
Some signs and symptoms include: fatigue, lack of appetite or abdominal pain, a yellowing of the skin and the whites of the eye (jaundice), golden-brown eye discoloration (Kayser-Fleischer rings), fluid buildup in the legs or abdomen, problems with speech, swallowing or physical coordination, and uncontrolled movements or muscle stiffness.
Despite a number of diagnoses, the official data for Wilson’s disease in Pakistan remains unavailable.
Medical professionals continue to treat patients but Pakistan lacks expertise, specialised physicians and a team comprising haematologists, neurologists, psychiatrists, paediatricians, dieticians, ophthalmologists – essential for treatment. This has resulted in many losing the battle to Wilson disease.
In Pakistan, the Welfare Organisation for Wilson Disease (WOWD) educates, supports and treats patients. The president, Irfana Jabeen Khan, is also a member of the Wilson Disease Association in the United States.
Know your symptoms: Copper is essential for your body, but too much could end up killing you
The treatment for the disease requires lifelong therapies including oral, physio and speech – depending on the patient’s symptoms and condition. For treatment, the approved drugs include D-Penicillamine (vitamin) and Trientine.
Although copper is important for the development of healthy nerves, bones, collagen and melanin, an excess is poisonous for the body and can damage the liver, brain, eyes and other organs. The genetic defect prevents the liver from metabolisation and removing unnecessary amounts of copper.
The bodies of people with Wilson disease are unable to eliminate excess copper hence it accumulates, possibly, to life-threatening levels.
The disease is present at birth but manifests only after copper builds up in organs.
Some signs and symptoms include: fatigue, lack of appetite or abdominal pain, a yellowing of the skin and the whites of the eye (jaundice), golden-brown eye discoloration (Kayser-Fleischer rings), fluid buildup in the legs or abdomen, problems with speech, swallowing or physical coordination, and uncontrolled movements or muscle stiffness.