A 26-year-old woman has been diagnosed with Wilson’s disease, which could lead to brain and liver dysfunction, and even death if left untreated, a Hsinchu doctor said on Tuesday last week.
Wilson’s disease is a rare genetic disorder in which copper builds up in the body, said Lee Cheng-hsuan (李承軒), a neurologist at National Taiwan University Hospital’s Hsinchu branch.
It has a prevalence of about one per 30,000 individuals worldwide, but the rate is higher in Asia, Lee said.
Photo courtesy of National Taiwan University Hospital’s Hsinchu branch
The patient, who requested anonymity, experienced shaking hands and difficulty walking to the extent that she had to lean on walls to walk, Lee added.
Clinical examinations showed that she had neurological problems, such as muscle stiffness and slow motor function, as well as brown discoloration in the eyes (Kayser-Fleischer rings), which are common signs and symptoms of Wilson’s disease, he said.
Blood and urine tests, and brain and liver screenings confirmed that she had the disease, he added.
Other common symptoms include dystonic postures, muscle rigidity, difficulty swallowing, difficulty speaking and poor articulation (dysarthria), lack of coordination, and changes in personality and behavior, Lee said.
As copper accumulates in the body, particularly in the brain and the liver, people with Wilson’s disease could develop cirrhosis at a young age and exhibit neurological symptoms in their 20s or 30s, he said.
It is a recessive genetic disorder, meaning parents of the individual with the abnormal gene do not usually exhibit symptoms, Lee said.
The woman’s 23-year-old brother has also been diagnosed with the disease, he said.
Unlike most other genetic disorders, Wilson’s disease can be treated by medication, which helps remove the excess copper from the body, Lee said, adding that people with the disease should follow a low-copper diet to prevent the condition from worsening.
People with Wilson’s disease need to take medication throughout their lives, but early diagnosis and treatment would drastically improve their life quality, as the disease is progressive, and delaying treatment could result in fatal brain or liver complications, he said.
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