Holguín: Specialists debate on rare diseases
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Although rare diseases have a low prevalence in the world, since it is estimated that they affect about six percent of the world population, the province of Holguín has a different frequency of these conditions, which is why the II Territorial Workshop on Rare Diseases was held here on February 28 in face-to-face mode.
As explained by the second-degree specialist in Clinical Genetics, Elayne Esther Santana Hernández: "the event coincides with the celebration of the World Day for Rare Diseases, since the province has several patients with specific diseases and affected families, although some of them they do not have a diagnosis confirmed by molecular studies, as they are not standardized in the country”.
In the event, held in the main hall of the Octavio de la Concepción de la Pedraja Pediatric Hospital, specialists presented different scientific results related to prevention, diagnosis, clinical and genetic characterization, genetic counseling and recent advances in research and treatment of this type of disease.
The criteria for defining rare diseases depend on the countries and organizations, since in the context of a certain region a disease can be classified as rare and in another it can be frequent.
In this sense, the head of the Department of Medical Genetics at the Holguín University of Medical Sciences, Víctor Jesús Tamayo Chang, explained that although diseases may be rare, those who suffer from them are not, hence they deserve to be diagnosed and treated to improve their quality of life. It has been investigated that 80 percent of these diseases are of genetic origin, which can be transmitted to more than one family member.
Most frequent rare diseases in Holguín
Among the rare diseases that reach the highest prevalence in the province of Holguín are fucosidosis, which includes neurological deterioration, coarse facial features, delayed growth and recurrent sinopulmonary infections, with this northeastern area having the highest rate in the country with 18 patients, out of a total of approximately 120 patients reported worldwide.
In that order are the so-called lysosomal diseases, with a chronic degenerative and multi-organ behavior. Fifteen patients have also been identified in specific populations with phenylketonuria, a disease that, like the previous ones, occurs when an inborn error of metabolism occurs.
Similarly, patients with cystic fibrosis are reported; ectodermal dysplasia, a genetic disease that presents specific skin conditions that require care, who are followed up in multidisciplinary consultation. Even in the territory there are patients identified with other rarer syndromes such as Lowry cofii, Prader Willi and many other diseases that, due to their phenotypic characteristics, have not been able to be defined.
For this reason, studies continue to offer adequate genetic counseling to families and that they are supported in the follow-up and treatment of patients, said the specialist from the Provincial Center for Genetics.
In general, there are health programs designed by the Government to provide support in response to the specific needs of those affected by these diseases.
Some diseases produced by an inborn error of metabolism, manifest very acute signs early in the neonatal stage and are diagnosable after the first crisis, with the help of diagnostic studies that allow confirmation. But there are others that have some associated congenital defects and dysmorphia that do not contribute to this early identification and it is due to delays in neurodevelopment or defects in some organ that specialists begin to notice, which entails a series of studies and time to outline the phenotype well and obtain a definitive diagnosis.
Thus, this regional workshop contributed to scientific improvement and promoted the exchange between professionals dedicated to the development of Human and Medical Genetics. Hence, it seeks to influence the quality of medical services provided in this northeastern territory to those affected with conditions of this nature.
Why does Holguín reach a high prevalence of rare diseases?
Regarding the possible causes that locate Holguín among the provinces with the highest incidence of this type of disease, Dr. Santana Hernández considers that it may be due to the fact that the Spanish settlement that lived in the region during the colonial period remained in closed places and this made possible an inward growth.
In the thesis works carried out in previous years, it highlights inbreeding as a social repercussion, a practice that for more than five decades was present in this area of Eastern Cuba and caused a different frequency of these sufferings.
For example, the time came when all the inhabitants of a certain locality were related, which brought about the appearance of autosomal recessive diseases because many more affected genes are shared in this type of union than in open populations. This is one of the geographical and social causes that could explain, in part, why a genetic frequency different from the rest of the country is reached. (Source: Radio Angulo)
