Enfermedades raras

Abstract

In general, a rare disease is one that has low prevalence in a population. Some definitions, like the one of the European Union, takes into account other variables, such as the severity of the disease, or the presence or absence of specific treatments for this condition. To give a scale of the problem, the World Health Organization says that 7% of the population suffers from a rare disease. It is estimated that there are five to seven thousand identified rare diseases; from which, the vast majority (approximately 80%) is genetic; however, there are others in which its origin is infectious, passing through oncological, degenerative diseases, or those that occurred during pregnancy. These diseases can be acute or chronic, start their symptoms at birth or during life, appearing even in adulthood, but about 75% starts in childhood. Treatments, especially pharmacological, have been the subject of little research and production. For this reason, they have been called "orphan drugs". It is estimated that approximately 4,000 of these diseases have not a curative treatment. The aim of this article is to give a current overview of the significance that rare diseases have in the world, from clinical and economical perspectives.