Wilson’s disease is a rare genetic disorder where excessive copper accumulates in various central organs in the body, mainly the brain and liver. In the majority of instances, Wilson’s disease is detected in its early stages in the patient, in people between the ages of 5 and 35. However, in some cases, it tends to occur in younger kids and older adults as well.

Copper, although a trace mineral that is required by the body only in minuscule amounts, performs several vital functions. It is involved in the formation of healthy red blood cells, along with iron. It also aids in the better absorption of iron by the tissues in the system.

Furthermore, copper is crucial for maintaining healthy bones, regulating normal blood circulation via arteries, veins and capillaries, upholding healthy nerve function, boosting immunity and enriching skin texture. Hence, an inherent defect in a person’s body wherein this important nutrient is not assimilated properly leads to copper getting accrued in numerous organs in the body, primarily the brain and liver. Also Read: Liver Facts & Health

Wilson’s disease is triggered in an individual by irregularities in their genes that are responsible for processing copper. It is an autosomal recessive disease and is hence present in a person who inherits abnormal copies of genes from both parents. In the situation where the child inherits only one copy of the defective gene from either the father or the mother, they do not have Wilson’s disease themselves but are carriers of the disease and could possibly transfer it to their offspring.

If left untreated, Wilson’s disease could result in grave consequences including liver problems, kidney malfunctioning, improper blood transport, anaemia, jaundice and even prove to be fatal. Hence, it is absolutely essential to seek immediate medical care if any signs of Wilson’s disease are observed in a person, so that appropriate treatment measures can be meted out and the condition can be managed effectively.

Risk Factors:

The main trigger factor that predisposes a person to acquire Wilson’s disease is if their parents, siblings or close family members also have the disease, as genetic aberrations are the underlying cause that can be inherited by the next generation. Therefore, it is strongly recommended that people whose parents or relatives have Wilson’s disease go for genetic testing, to enable early detection of the disease in the individual for better efficacy of treatment procedures.

Symptoms:

The distinguishing symptoms of Wilson’s disease consist of:

• Exhaustion, dizziness and nausea
• Pain in the stomach and surrounding regions, with decreased appetite
• Stiffness and severe pain in muscles and joints
• Discolouration in the eyes, turning them golden-brown, due to surplus toxic copper deposits, known as Kayser-Fleischer rings
• Buildup of extra fluid deposits in the legs and abdomen

Diagnosis And Treatment:

The doctor initially conducts blood and urine tests, to look for traces of copper or copper-binding proteins in the samples. In addition, the medical professional also examines the eye of the individual, to see if Kayser-Fleischer rings have formed.

A small portion of tissue is also excised from the liver of the patient, to scrutinize it for the presence of additional copper deposits, scarring or tumours. Also Read: Liver Cancer: Causes, Symptoms And Treatment

Once the diagnosis of Wilson’s disease is confirmed, the healthcare provider immediately begins the course of treatment. Since this ailment is a chronic genetic disorder, remedial measures and medical protocols must be taken lifelong.

The medical expert advises the patient to strictly restrict copper intake in diet and supplements. Prescription drugs, which function by binding to extra copper ions and smoothly eliminating them from the body, are also given to the patient by the physician. In instances of severe damage to the liver, the patient might have to undergo a liver transplant surgery.