Una mirada imageneológica, fisiopatológica y actualizada de las enfermedades huérfanas, desde la perspectiva real del departamento del Tolima

Abstract

During this cross-sectional retrospective descriptive review, the aim is to establish from
the prevalence of these pathologies to the main sociodemographic factors, the main
clinical and radiological characteristics, and to establish the main associations between
the diseases and the sociodemographic, clinical, radiological and survival factors in
patients. reported to SIVIGILA in the department of Tolima between the years 2017 - 2018.
Orphan diseases occur in a small part of the population but are chronically devastating,
fatal and debilitating in the short term, with multiple etiologies, one of the main ones
being genetic changes and inheritance among relatives; Being illnesses of low prevalence
in the population, the studies and information on it is limited, so it was decided to form
a descriptive study on the sociodemographic, clinical and radiological characterizationof the patients in the department of Tolima, registered within the platform of SIVIGILA
epidemiological surveillance in 2017 and 2018.
In the department of Tolima there is no information about lysosomal storage diseases
such as Mucopolysaccharidosis and Fabry disease and taking into account the above
about being a group of diseases that generate a high cost to the health system, calculating
on average a total of 480,173 euros per year, with regard to enzyme replacement therapy
(3), apart from the expenses provided by multiple admissions to intensive care units,
hospitalizations and interdisciplinary management and also because it is a chronic
disease that has no cure, leads the family of the person who suffers to generate other
types of extra expenses such as travel to controls and care at home, in most cases the
needs and dependence of those affected forces them to there is a constant caregiver,
who is often the mother or father, providing a decrease in income in the family. Currently,
the department has only one case presentation regarding Gaucher disease.
According to the above, the need arises to study and document the characterization of
this type of pathologies in the department of Tolima, to know their behavior and answer,
What is the prevalence of Mucopolysaccharidosis, Fabry’s disease, Gaucher’s disease;
the main sociodemographic, clinical and radiological factors; in addition to the main
associations between diseases and sociodemographic, clinical and radiological factors,
and survival, in patients reported to SIVIGILA in the department of Tolima between the
years 2017 - 2018 .