Wilson’s disease, when your liver poisons you with copper

Aida Regi had the first symptom of Wilson’s disease with 11 years, a hemolytic anemia, but at that time no one knew that behind this lack of red blood cells, fatigue and exhaustion were hiding rare sickness. At the same age, one of his two younger brothers began to write badly and have involuntary movements. Within two weeks, she was diagnosed with Wilson’s disease, which Aida and her other brother also had. All three had copper on their brains and when they started to process this copper and the drug itself caused brain damage and they stopped talking, walking and controlling their movements.

Wilson’s disease is a rare inherited genetic disorder in which the liver stops working properly, producing less bile and releasing unnecessary copper into the bloodstream. Copper, which is toxic beyond what we need for good health, travels throughout the body, damaging the brain, kidneys, cornea or any part of the body where this metal ends up, such as indicates the Spanish Association of Parents and Patients of Wilson.

Affected one person per 40,000 inhabitants and made its debut mainly between five and 35 years old, although there are people who are diagnosed beyond the age of 40. It is a “very heterogeneous” pathology, butHe has a treatment and a good prognosis if it is treated early”, he tells this media Dr. Zoe Marino, senior specialist in hepatology at the Hospital Clínic de Barcelona. Although the safety profile of available treatments can be improved, as the Regi brothers experienced, “they work,” says Dr. Mariño.

“Currently we can walk, although with difficulty, and also speak with difficulty”

As Aida Regi tells this psychic, she and her brothers had to start on chronic medication and go to rehabilitation to recover what had been lost due to the first weeks of a treatment they had to change. “Today we can walk, although with difficulty, and also speak with difficulty, and one of my brothers had to liver transplant says Regi, who is now a board member of the Spanish Wilson Association. In addition, they usually have fatigue and weariness, “but we live independently and we try to manage as best we can”.

Like them, Stele Simon He has lived with this disease for years. She was in college studying business in 1997 when the symptoms started. I was 20 years old. “I had to stop studying, I had to brain and liver damage. He is currently taking six medications and vitamin D, a chronic treatment that has seen him improve from the time before diagnosis, but the disease continues to worsen. “I have gotten worse both physically, motor and above all psychologically over the past 7 years.” She suffers from choreic movements, poor balance, gait instability, hepatitis and persistent depression.

“It was a great personal and family trauma”

In 2000, at the age of 37, it was the turn of Faustino Gimenez, current president of the association dedicated to this disease. “When I got the diagnosis, they did a liver biopsy and got some 1250 microgram liver copper results when the normal is 150 to 200 micrograms, ”he says Consalud.es. He had high transaminases, high cholesterol, leg pain and muscle stiffness. He is now a type 2 diabetic due to the after effects of liver damage and has recently had problems with numbness in his hands and feet. “It was a great personal and family trauma that I was able to overcome thanks to the Spanish Association of Parents and Patients of Wilson.”

“Any chronic illness can have a great physical and emotional impact. Wilson’s disease is a genetic disease which also has an impact on the future of the patient, with personal and family implications. Obviously, the greater the affectation and the more serious the disease in each case, the greater the impact will be,” says Dr. Mariño.

Fortunately, there is more and more research, even for rare diseases like this, and safer treatments are being researched and even gene therapy is being developed. “Some news worth mentioning is that we currently have new biomarkers in the blood which are useful for the diagnosis (calculation of the REC) and for the follow-up (measurement of the exchangeable copper) of the Wilson’s disease and which, fortunately, are beginning to become widespread in hospitals in Spain, ”explains the expert, who insists that it is a disease with treatment and a good prognosis if treated early.

Because we all need health… ConSalud.es

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