“My neighbours thought that I was high on alcohol, as my speech was slurred and I was trembling,” says Marek Zapletal, 32, an engineer from the Czech Republic, recalling an incident from 2020. “My hands shook uncontrollably, and my fingers were showing a particular type of movement — a pill-rolling tremor [rubbing of the forefinger and thumb as if rolling a pill between them],” he adds.
A medical examination and a genetic and urine test later, his doctor revealed that Zapletal had Wilson’s disease.
Copper build-up
“Wilson’s condition is caused by abnormal accumulation of copper in the body, especially in the liver, brain and eyes,” says Dr Vikram Holla, associate professor of neurology at the National Institute of Mental Health and Neurosciences (NIMHANS).
He adds that Wilson’s disease is an autosomal recessive genetic condition, implying the child inherits the defective gene from the parents. The condition manifests in early childhood.
Copper is an essential nutrient for our bodies. However, an ally can become a foe if it exceeds the body’s requirements. “Normally, the body gets rid of excessive copper by collecting it in the liver and excreting it in the liver’s bile, then finally flushing it out via urine and stool,” explains Dr Holla.
Typically, the gene ATP7B aids in transporting copper from the liver to other parts of the body, removing surpluses where necessary. Usually, copper attaches to proteins in the body. However, a mutation in the gene disrupts the copper from linking to proteins. The metal then circulates in the body in a free radical form, causing copper toxicity to organs, mainly the liver, brain and eyes, says Dr Holla.
Wilson’s brain
These free forms of copper accumulate in the brain, causing neurological symptoms of Wilson’s condition, as Zapletal experienced.
Free radicals of copper damage neurons in the basal ganglia and, in some cases, the midbrain. Some common symptoms are cognitive abnormalities, memory issues, clumsiness, tremors, difficulty walking, muscle rigidity, speech problems, impaired thinking, depression, anxiety and mood swings.
Even when copper accumulates in the liver, neurological symptoms can arise, as Usama Murtaza, 24, faced. The youth from Dina in Pakistan’s Jhelum district was six years old when this doctor found that his liver was affected by excessive copper deposits. His was a hepatic form of Wilson’s.
Initially, things seemed normal for Murtaza. When he reached the ninth grade, the condition started to take a toll on his mental health. “I began to experience anxiety and sadness, and I was terrified of going to school alone,” recalls Murtaza. He says by the time he was in the 12th grade, he started developing personality changes.
How Wilson’s disease affects other organs
Misdiagnosed
Misdiagnosing Wilson’s disease is not uncommon owing to symptoms overlapping with epilepsy, Parkinson’s or ataxia. The copper deposits in the basal ganglia and cerebral cortex can trigger seizures and cognitive abnormalities.
The psychiatric symptoms of Wilson’s disease may be mixed up with those of other disorders, such as depression, schizophrenia, or addiction.
Life with extra copper
According to Dr Holla, early diagnosis and medical attention can improve the recovery of people with Wilson’s condition. Psychiatric symptoms are well managed by consulting an experienced psychologist.
Zapletal vouches for it, saying initially, he battled sleep difficulties and depression. However, he is progressively getting better with proper medicines and support from his psychologist. “I now hold a order manager position at Siemens,” says Zapletal brimming with gratitude.
Dr Holla agrees, “With proper treatment and a healthy lifestyle, one can have a fruitful independent life.” However, he says the recovery process could take time due to the extensive damage accumulated within the body over many years.
Dr Holla advises individuals not to lose hope if an immediate improvement is not apparent, as there is still potential for respite.
