A rare inherited disorder accompanied by a host of unpleasant symptoms, including swelling of the liver and spleen, was found to be misdiagnosed the majority of the time, resulting in harmful and often unnecessary treatments, according to a three decade review of case files by researchers in South India.

Wilson’s disease is present at birth, with its symptoms appearing in the sufferer between the ages of 6 and 20. The condition is often misdiagnosed due to “varied clinical manifestations” posing “a diagnostic and therapeutic challenge.”

The disease occurs when an individual receives two copies of an abnormal gene, one from each parent, causing the body to retain excess copper, due to the failure of the liver to efficiently process the metal into bile. As a result, copper starts to build up in the liver, which can be released into the bloodstream, causing damage to the kidneys, brain, and eyes, according to The American Liver Foundation.

Wilson’s disease may lead to brain damage if left untreated

If left untreated, Wilson’s disease may result in brain damage, liver failure and death, but if caught early, patients can live a normal life. In Europe, the condition is estimated to affect between 12 and 29 people out of a population of one million; in the U.S. it’s more like one in 30,000 who are affected.

After examining the medical records of 307 individuals between 1970 and 2003, scientists with the (NIMHANS), a university teaching hospital in Bangalore, recognized incorrect diagnoses or no diagnoses in 192 patients with Wilson’s disease, according to the study, which was published in the Journal of Neurology, Neurosurgery & Psychiatry.

Of the 307 patients, 98 received a correct diagnosis; however, only 16 received the proper de-coppering treatment, say scientists.

The average age for which individuals began exhibiting symptoms was about 13 years old. The most commonly observed symptoms included tremors, dysarthria (unclear speech), jaundice, abnormal gait, abdominal distension (stomach bloating), musculoskeletal complaints, seizures, behavioral problems, dystonia (involuntary muscle spasms), clumsiness and drooling, among others.

Misdiagnoses result in unnecessary brain surgeries and shock wave therapy

The rarity of Wilson’s disease caused it to be misdiagnosed 192 times, according to scientists. Doctors mistook the illness for numerous other conditions such as schizophrenia, Parkinson’s disease, kidney disease, metabolic and muscular disorders, deadly brain disorders and neurodegenerative disease, among others.

As previously mentioned, if an accurate diagnosis is made early enough, patients with Wilson’s disease may go on to live a full life. However, those who received an incorrect diagnosis, or no diagnosis at all, experienced a much bleaker outlook, which in some cases resulted in harsh and unnecessary treatments such as electroconvulsive therapy, brain surgery and antipsychotic drugs.

Electroconvulsive therapy (ECT) is a procedure performed under anesthesia involving small shock waves sent through the brain, triggering brief seizures. The Mayo Clinic says ETC is “much safer today;” but is still attached to a stigma based on earlier treatments when it was given without anesthesia, causing bone fractures, memory loss and other serious side-effects.

Young woman undergoes unnecessary brain surgery

Thalamotomy is a form of brain surgery in which the thalamus is destroyed. It’s performed on patients while they’re awake, according to the National Parkinson’s Foundation.

Antipsychotic drugs carry an additional set of side-effects, some of the worst include suicidal and homicidal behavior. The drugs have also been linked to heart problems, cancer, sudden death, weight gain, diabetes, involuntary movements, strokes and seizures.

Researchers note a case of misdiagnosis involving a 29-year-old woman who was healthy until the age of 25 when she began experiencing tremors in her upper limbs, which over several months progressed to all four limbs. She later developed mania, prompting a psychiatrist to place her on several psychotropic drugs. Another physician added two Parkinson’s disease medication.

Showing little improvement, the woman underwent a thalamotomy. Though her tremors decreased, she developed severe mania one month following the surgery. She was eventually diagnosed with Wilson’s disease after being referred to the Department of Neurology, National Institute of Mental Health and Neurosciences  (NIMHANS), the institute in which the study’s authors work.

She finally began to improve after receiving the correct treatment.

Sources:

LiverFoundation.org

JNNP.BMJ.com

Parkinson.org

MayoClinic.org

CCHRInt.org