The lack of knowledge of the symptoms of Hunter's syndrome in parents and the medical community has become an "obstacle" to detecting it in time and improving the quality of life of patients, said the geneticist María del Carmen Esmer Wednesday in Mexico.
Within the framework of the World Day of Mucopolysaccharide, Dr. Esmer Efe that one of the biggest problems is that the symptoms of this condition can be confused with other conditions.
"Symptoms usually do not occur during the first four years of life, plus one of them is that they have short and small bones, which can be confused with other conditions," said the Teletón de Oncología de Querétaro (Central Mexico) hospital.
However, it is important to discover this syndrome, also known as type 2 mucopolysaccharide, in the early stages to prevent symptoms from affecting the patients' quality of life, he says.
This disease, said the expert, has no cure and therefore the symptoms cannot be reversed but controlled. "That's 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 clinically show the disease, but they can inherit it from their children.
"For every child they have, the ability to suffer from this condition increases by 5%," he said.
The expert said that this condition occurs when the enzyme iduronate 2-sulfatase is not sufficient and therefore the complex molecules in the body accumulate in harmful amounts.
This causes patients to accumulate substances that affect all of the body's organs, affecting the physical aspect, stopping growth and mental development, and impairing the general physical function and physical ability of the organs.
The biggest problem with this condition, however, is that patients usually do not exhibit symptoms that are too obvious. "Some babies can get the Mongol site – the one seen on the back at birth – very large, and that's a symptom," he said.
With this condition, organs that live and spleen grow in addition to those children suffering from it, deformations in their physical appearance.
In addition, although there is a screening that can detect it, there is also a need for institutions to do so.
The specialist, however, believes that patients should try to approach health care institutions, as it is a costly illness covered by Seguro Popular and other health institutions.
Currently, enzyme replacement therapies have been developed which have shown favorable long-term results. These consist in giving the patient the enzyme he needs and helping him to throw away the substrates that degenerate the cells.
Finally, the specialist said that it is important that patients are involved in the treatment, as this is a guarantee of a good quality of life.
"This disease does not survive beyond the second decade of life, but the important thing is that those who suffer from it live as best they can," he concluded.