University of São Paulo: Rare diseases affect 13 million Brazilians and need more attention

According to the Ministry of Health, 1.3 people for every 2 thousand individuals are affected by rare diseases . Despite the name, about 13 million people have rare diseases in Brazil. This is because such problems are not restricted to just one disease: it is estimated that there are 8,000 types of them.

In addition, they are considered chronic and can lead to death. Because they have a low frequency, they generally have no cure and there is little preparation of professionals, who are used to more recurrent situations. World Rare Disease Day , the last day of February, was created to draw attention to these problems that affect so many individuals.

Magda Carneiro Sampaio, professor at the USP School of Medicine (FMUSP) and chairman of the board of directors of the Instituto da Criança e do Adolescente at Hospital das Clínicas da FMUSP, explains that “rare disease is a concept of frequency, but manifestations can be several and that almost all have a genetic origin”.

Origin of rare diseases
In large part, rare diseases originate from genetic problems and the manifestations are the most diverse. Inborn Immunity Errors, for example, cause problems related to the immune system. “They are mutations and, in most of these cases, they are monogenic diseases, that is, only one gene is affected”, adds Magda.

Importance of diagnosis
Because they have different symptoms and are chronic problems, rare diseases must be diagnosed as soon as possible so that the individual does not have their quality of life affected. The heel prick test, done shortly after birth, helps detect about 50 types of rare diseases.


As an example, congenital hypothyroidism, if detected earlier by this test, can now be treated. “They [children] immediately begin to receive replacement with thyroid hormone, a very simple situation”, says the teacher. If they are not diagnosed, the disease progresses to an irreversible mental disability.

But the heel prick test cannot account for the 8,000 types of rare diseases. In general, diagnoses are made by genetic tests and the suspicion of an unusual disease makes it difficult to understand and possible treatments.

Magda highlights that “diagnosis is very difficult, because doctors and nurses, in primary care, are very well trained to diagnose the most common conditions, but not the rare diseases”. To get an idea, in developed countries, on average, the patient takes five years to make the diagnosis.

What to do to improve the situation?
Since 2014, Ordinance No. 199 of the Ministry of Health has already provided guidelines and funding to “reduce mortality, contribute to the reduction of morbidity and mortality and secondary manifestations and improve the quality of life of people” affected by rare diseases. However, more than that will be needed.

The teacher proposes some measures to, for example, facilitate the diagnosis and treat these diseases as soon as possible. “First, increase the coverage of the heel prick test, […] think more about these diseases, both for health professionals, mainly in primary care, but also for the population.” She goes on to explain the importance of people seeking to know their family history, because as they are diseases linked to genes, this information can facilitate coping with the disease.

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