Woman in Ho Chi Minh City suffers from “mysterious” disease, misdiagnosed for 20 years

(Dan Tri) - For 20 years, the woman believed she had Parkinson's disease. But now, doctors have discovered that the patient has another dangerous genetic condition that causes the accumulation of toxins silently.

On October 17, a representative of Nguyen Trai Hospital (HCMC) informed Dan Tri reporter that recently, doctors here received and treated a female patient with a rare "mysterious" disease, causing the patient to be misdiagnosed for a long time.

Two decades of mistaken Parkinson's

The patient is a 50-year-old woman living in Ho Chi Minh City. Medical history shows that since the age of 30, the patient began to experience hand tremors and difficulty in controlling movements.

From these symptoms, she was diagnosed with Parkinson's disease and prescribed medication, which initially responded well. But over time, the symptoms continued and relapsed more severely.

Two decades later, the patient had bilateral hand tremors, unsteady gait, and short-term memory loss. Recently, the woman even lost the ability to walk on her own.

At the time of admission, in addition to neurological symptoms, the patient also had severe signs of liver disease, such as spider angiomas (networks of many small blood vessels appearing on the skin), red palms, and moderate abdominal distension.

Woman misdiagnosed with Parkinson's disease for a long time (Photo: NT).

After receiving the patient, doctors at Nguyen Trai Hospital determined that the patient's unusual symptoms of simultaneous liver damage and movement disorder were not simply Parkinson's disease.

The patient was given a comprehensive examination by a combination of the Neurology, Gastroenterology and Ophthalmology departments, which detected a series of conditions.

The first is the presence of Kayser-Fleischer rings (brown or blue-gray rings that appear around the edge of the cornea of ​​the eye) when illuminated, a classic sign of Wilson's disease caused by copper accumulation in the cornea.

Second, the blood Ceruloplasmin (a copper transport protein) index was decreased. Third, the urinary copper (the amount of copper excreted in urine) collected over 24 hours was increased. Fourth, brain MRI images recorded brainstem and thalamic degeneration, suggesting metabolic pathology.

The patient was found to have a mutation in the ATP7B gene (Photo: Hospital).

Finally, genetic testing found two heterozygous mutations in the ATP7B gene (which codes for a copper transport protein).

“The discovery of the ATP7B gene mutation has firmly confirmed the diagnosis of Wilson's disease, officially ending the series of patients with Parkinson's misdiagnosis that lasted nearly 20 years,” shared Dr. Ha Phuc Tuyen, Deputy Head of the Department of Gastroenterology at Nguyen Trai Hospital.

With the correct diagnosis, the patient was prescribed treatment with gradually increasing low doses of D-penicillamine and zinc supplements (to reduce copper absorption in the intestine), along with a strict diet (avoid animal organs, shellfish, chocolate...).

Close follow-up is key to improving prognosis.

Why is Wilson's disease easily confused ?

According to Dr. Tuyen, Wilson's disease is an autosomal recessive copper metabolism disorder. Mutations in the ATP7B gene cause dysfunction of the copper transport protein in the liver, reducing copper excretion into bile and leading to copper accumulation in the liver, brain, cornea and other tissues.

Experts have found that in older adults, Wilson's symptoms are often milder and atypical, so they are easily misdiagnosed with other diseases.

A study analyzing 55 patients diagnosed with Wilson's disease after age 40 found common symptoms to be behavioral disturbances, tremors, and unexplained chronic liver dysfunction.

“The woman's case is similar to other cases around the world , where Wilson's has been mistaken for Parkinson's or even other metabolic liver diseases, such as metabolic steatohepatitis.

A notable detail in this case is the family history, as the patient's biological sister also has hand tremors and memory loss of unknown cause," Dr. Tuyen analyzed.

A case of Wilson's disease, misdiagnosed for many years (Photo: Hospital).

Doctors warn that Wilson's disease usually "knocks on the door" in adolescence or young adulthood (5-35 years old). However, late-onset cases pose many challenges and are easily misdiagnosed.

Therefore, in people - whether young or old - who have unexplained liver damage associated with movement disorders (such as tremor, ataxia), Wilson's disease should be included in the differential diagnosis.

Because the disease is hereditary, experts emphasize the need for family screening. Specifically, all first-degree relatives (parents, siblings, children) of Wilson's patients should be screened for copper in their urine and tested for the gene, even if they have not yet shown any clinical symptoms.

Source: https://dantri.com.vn/suc-khoe/nguoi-phu-nu-o-tphcm-mac-can-benh-bi-an-bi-chan-doan-nham-suot-20-nam-20251017110754153.htm