Uncommon diseases affect one in 13 Argentines

This Friday, February 28the world commemorates the Disease day of rare diseases (EPOF) with the objective of raise awareness On these pathologies and promote health policies that guarantee access to adequate treatments, to reach the general public with the information of rare diseases and what is the impact on the lives of patients.

The EPOF They affect 1 in 13 people in Argentinaimpacting many families (1 every 4). Are Chronicles, complex, progressive and disabledand some can become mortal. Exist More than 10,000 rare diseases In the world, with approximately 300 new descriptions every year.

What are rare diseases (EPOF)

The EPOFare those that affect a small number of people in the general population. In Argentinait is considered a rare disease that affects less than 1 in 2,000 people. However, due to the large amount of EPOF identified, it is estimated that they together affect a significant number of people in the country.

He 80% of rare diseases have an identified genetic origin, with an implication of one or more genes. Others are caused by infections (bacterial or viral), allergies, or are due to degenerative, proliferative or teratogenic causes (chemicals, radiation, etc.) and for others, the etiology is still unknown. While they can occur at any age, 75% of cases are presented in pediatric age.

THE GREAT CHALLENGE: OBTAIN A DIAGNOSIS

One of the biggest problems facing patients is the delay in the diagnosis. On average, you can carry between 5 and 10 yearsand many times people must go through Several specialists Before obtaining it. In fact, More than 40% of patients receive erroneous diagnoses during the process.

Uncommon diseases remain a challenge in terms of diagnosis and treatment. The key is in information, awareness and access to an early diagnosis. This February 28, we invite the community to join to help visible rare diseases.

Challenges and advances of rare diseases (EPOF)

• Late diagnosis: Due to the rarity and diversity of these diseases, the diagnosis is usually complex and prolonged, which delays the beginning of adequate treatments.
• Lack of specific treatments: Many EPOF lack effective therapies, which underlines the need for greater investment in research and innovation to improve the quality and life expectancy of patients.
• Limited access to resources: Patients often face difficulties in accessing adequate information, specialists and treatments, especially in regions with less health resources.
• Research and Development: Organizations and scientific entities are investing in the development of new treatments and in the understanding of these diseases to improve treatments, which could be applied in the future to different rare pathologies.
• Awareness and Education: He World day of rare diseasesseeks to increase public awareness and highlight the importance of investment in research to provide new responses to patients and also bring information to those who still have total ignorance.

Despite the challenges, the continuous commitment of the global community in research, awareness and collaboration offers hope to improve the lives of millions of people affected by rare diseases worldwide.

From Alapa (Argentine Alliance of Patients) and throughout the country activities are promoted, one of them is the EPOF day at 10 am, on February 28, in the Zero + Infinite building of the UBA Access Pavilion 1, in the Autonomous City of Buenos Aires. While talks will be held throughout the country, in that sense, in resistance, Chaco with the participation of Dr. Mauricio Tomei there will be a talk with film projection about information from hereditary amyloidosis by transport.

Awareness on hereditary amyloidosis by transportation (hattr)

This 2025 seeks to raise awareness about hereditary amyloidosis by transportation (Hattr), also known as family amyloidotic polyneuropathy. It is a rare, hereditary and progressive disease, which affects the nervous system and various organs of the body. The term “polyneuropathy” indicates that it compromises multiple nerves, while “amyloidotic” refers to the damage caused by the deposition of protein fibers called amyloids, which affect the structure and function of the tissues involved.

Difficulties in diagnosis

One of the main challenges in the detection of this pathology is that its symptoms are nonspecific and may resemble other more frequent diseases. Among the usual symptoms are dizziness, intestinal alterations such as diarrhea or constipation, and mainly symptoms compatible with sensitive-motor neuropathy; Difficulties for walking and tingling in the legs. The clinical manifestation of the disease can begin around 30 years or, in some cases, after 60. However, defective protein begins to affect the organism gradually, with symptoms that can occur up to 10 years before a more evident expression of the disease. This progressive course and the lack of information about Hattr cause patients to consult up to five specialists before receiving a precise diagnosis, which delays treatment and aggravates the disease, deteriorating the patient’s quality of life.

Uncommon diseases: SEñales de Alerta

The body can manifest various signals (symptoms) that suggest the presence of Hattr. Progressive sensitive-motor neuropathy, characterized by pain and tingling on the feet and hands, as well as different degrees of difficulty walking, can be accompanied by one or more of the following symptoms:

• Early autonomic dysfunction (erectile dysfunction in man, dizziness caused by orthostatic hypotension).
• Gastrointestinal disorders (chronic diarrhea, alternation between constipation and diarrhea).
• Unintentional weight loss.
• Cardiac conditions (pseudo-cardiac hypertrophy, arrhythmias and cardiac locks that may require the use of pacemakers).
• Bilateral carpal tunnel syndrome.
• Renal failure
• Ocular alterations: vitreous opacities (black spots in the visual field), and glaucoma

Importance of diagnosis and relevant studies

The neurologist Mauricio Tomei (MP: 6755), who exercises medicine in the Chaco town of Charata, said: “From my team, what we want is to get more and more professionals to be interested in the diagnosis, and thus monitor a greater number of people and facilitate access to the therapeutic options available. We think that this situation can be reversed having a solid team that justifies and supports the reason for medication”

Chaco has an endemic zone, which is more patients than the statistical average, so it is so important to raise awareness about the disease and basic care.

It is to emphasize that the neurologist Tomei works very focused on amyloidosis considering the importance of an integral look. “The disease is also manifested with neurological symptoms and subsequently arouse cardiological symptoms. Locally, it occurs late, around 50 years. To whom we could diagnose younger, they still have no symptoms compatible with the disease ”he explained.

So, for now, it is very important to advance in timely newspaper monitoring and promote healthy habits mentions the specialist.