The lack of knowledge of the symptoms of Hunter syndrome in parents and the medical community has become a "barrier" to detect it in time and improve the quality of life of patients, geneticist María del Carmen Esmer said in Mexico on Wednesday.
As part of the World Day of Mucopolysaccharidosis, Dr. Esmer to Efe that one of the main problems is that the symptoms of this condition can be confused with other conditions.
"Symptoms usually do not occur in the first four years of life, and one of them is that they have small bones and small bones that can be confused with other conditions," said the specialist at the Children's Hospital Teletón de Oncología de Querétaro (center of Mexico ).
However, detecting this syndrome, also known as type 2 mucopolysaccharidosis, is essential in the early stages to prevent symptoms affecting patients' quality of life, he said.
This disease, the expert said, cannot be cured and therefore the symptoms cannot be reversed but controlled. "That is why early diagnosis is so important," he explained.
Esmer explained that this is a genetic, chronic, degenerative disease that affects one in every 100,000 men worldwide.
Although parents are carriers of this genetic mutation, they sometimes do not show the disease clinically, but they can inherit it from their children.
"For every child they have, the chance of suffering from this condition increases by 5%," he said.
The expert said that this condition occurs when the enzyme iduronate 2-sulfatase is not enough and therefore the complex molecules of the body accumulate in harmful amounts.
This causes patients to accumulate substances that affect all the organs of the body, affect the physical aspect, stop growth and mental development, and affect the overall function of the organs and physical abilities.
The biggest problem with this condition, however, is that patients do not usually show symptoms that are too obvious. "Some babies may have the Mongolian spot – the one that appears on the back at birth – very large, and that is a symptom," he said.
With this condition, organs such as the liver and spleen grow, in addition to the children who suffer from it, suffer from deformities in their physical appearance.
Although there is a screening that can detect it, there is also a need for institutions to do this.
However, the specialist believes that patients should try to approach health care institutions because, although it is a costly disease, it is covered by Seguro Popular and other health care institutions.
Currently enzyme replacement therapies have been developed that have shown favorable long-term results; These consist of providing the patient with the enzyme he needs and helping to discard the substrates that degenerate the cells.
Finally, the specialist said it is important that patients are committed to their treatment, as this is a guarantee of a good quality of life.
"The survival of this disease does not go beyond the second decade of life, but the most important thing is that those who suffer from it always live as well as possible," he concluded.