2 new mutations of Wilson's disease detected in country

• Doctors advise against marriage between blood relatives
• 6,000 patients with Wilson's disease are in the country
• Gene therapy is available at BSMMU
• One in every 30,000 people in Bangladesh is affected by Wilson's disease
• The symptoms are usually related to the brain and liver

Two new mutations of the rare genetic condition Wilson's disease have been detected in the country during research conducted by the Bangabandhu Sheikh Mujib Medical University (BSMMU).

According to the National Institute of Diabetes and Digestive and Kidney Diseases, Wilson's disease is a genetic disorder that prevents the body from removing extra copper, causing copper to build up in the liver, brain, eyes, and other organs.

Without treatment, high copper levels can cause life-threatening organ damage, it added.

"The total number of patients as part of the research was 50 – 28 males and 22 females. Three mutations were found among six of the patients, two of which were new to Bangladesh. They are being treated at the BSMMU with targeted gene therapy," said Professor Dr Laila Anjuman Banu, chairman of the Department of Anatomy at BSMMU.

"One in every 30,000 people in Bangladesh is affected by Wilson's disease. Accordingly, the number of patients in the country will be about 6,000," she said while releasing the study report, "Genetic Changes and Their Neurological Symptoms in Bangladeshi Wilson's Patients", at the BSMMU's Shaheed Dr Milton Hall today (14 May).

Conducted jointly by the Department of Neurology and the Department of Anatomy at the BSMMU, Dr Banu and Neurology Professor Dr Ahsan Habib Helal presented the research findings at the event.

"So far, we have treated about 200 people at BSMMU. If someone is diagnosed with this disease, he or she will need lifelong treatment. With proper treatment, there is a chance of a lifetime of well-being. If the treatment is stopped, this disease can lead to death," said Dr Laila Arjuman Banu.

She mentioned that if one family member is diagnosed with the disease, it is possible to mitigate the risk if the disease is quickly detected by testing other family members.

The patients taking part in the study were aged between 9 and 60 years. The majority of patients fell within the 9-30 age range, comprising 43 individuals.

The symptoms of Wilson's disease are usually related to the brain and liver, as mentioned at the event. Liver-related symptoms include vomiting, weakness, and fluid retention in the abdomen, leg swelling, yellowing of the skin, and itching. Brain-related symptoms include tremors, muscle stiffness, difficulty speaking, personality changes, anxiety, and depression.

Dr Ahsan Habib Helal mentioned that the study included patients from the movement disorder clinic and indoor patients of the neurology department. Three ml of blood was collected from the patients and sent to the genetic lab of the anatomy department for genetic analysis.

Regarding the symptoms of the patients, Dr Ahsan said, "Among the patients we received, there were problems with swallowing, tremors in the hands and feet, stiffness in the hands and feet, problems with uncontrollable twisting of the neck, and problems with uncontrollable twisting of hands and feet, as well as problems with uncontrollable movements like dancing."

Among the first-generation relatives covered in the study, seven were affected. Twenty-six children had to drop out of school due to this disease.

Dr Ahsan Helal said if both parents have the disease, the child is also at risk of getting the disease. "That is why we advise close relatives not to marry," he added.

BSMMU Vice-Chancellor Professor Deen Md Nurul Haque said that though copper is important for the human body, excess of it is harmful. 

"Because diseases and problems like Wilson's are caused by genetic changes, it is best not to have close blood relatives marry in order to avoid this disease," he added.