Rare Diseases: Neither so few nor so unknown

by time news
  • To date, 6 to 7 thousand rare diseases have been discovered in the world, affecting more than 230 million people of all ages.
  • The SSa estimates that in Mexico there are around eight million people with a rare disease, although there are no official figures.
  • Currently, the companies that make up the AMIIF, which address this type of illness, have at least one treatment approved by Cofepris linked to 55 illnesses of this type.

While there are high-incidence health problems, there are also others with which the opposite occurs. It’s all about the calls rare diseases and according to the World Health Organization (WHO) there are between six thousand and seven thousand pathologies of this type. While in total they affect more than 230 million people of all ages on the planet.

For its part, the Ministry of Health (SSa) estimates that in Mexico there are around eight million people with a rare disease. With this in mind, the figure is not really low and that is why one of the strategies used for early detection is the neonatal screening implemented in 1973. The reason is because more than 80% of them are of genetic origin.

What are rare diseases?

They are considered in this classification when they occur in no more than five cases per 10,000 inhabitants. They are characterized by having a high mortality rate, but a low or very low prevalence. In general, these diseases behave with a very severe chronic evolution, with multiple motor, sensory and cognitive deficiencies. Therefore, they usually present a high level of clinical complexity that makes their diagnosis and recognition difficult. They can manifest from birth, during childhood and in adulthood.

under the World Rare Disease Day which is commemorated every February 28, the Mexican Association of Pharmaceutical Research Industries (AMIIF) calls for prompt and effective detection and care in favor of the quality of life of patients.

It is necessary to develop more drugs for this type of health problems

According to the Spanish Federation of Rare Diseases (FEDER), from the appearance of the first symptoms to obtaining a diagnosis, an average of 5 years elapses, so the time to diagnosis is delayed. As a consequence, the disease worsens in 26.8% of cases, and only 6% use orphan drugs, which are so called because they are not widely used and are intended for the treatment of low-prevalence diseases.

Although almost all genetic diseases are rare and are present throughout a person’s lifeEven if the symptoms don’t appear immediately, not all of them are genetic. For example, there are rare infectious diseases, as well as autoimmune diseases and some cancers. To date, the cause of many still remains unknown.

In this sense, it is important to highlight that currently, the companies that make up the AMIIF, which address this type of illness, have at least one treatment approved by the Federal Commission for the Protection against Sanitary Risks (Cofepris) linked to 55 rare diseases.

Also read:

Rare Diseases: 1 in 15 Mexicans could have one and not know it

This is the first Rare Disease Medical Unit in Mexico

Graphic of the day: The only 20 rare diseases that are recognized in Mexico

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