What are rare diseases?

Rare diseases are characterized by a wide range of signs and symptoms and vary from disease to disease and from person to person affected by the same condition. Relatively frequent manifestations can simulate common diseases, making their diagnosis difficult and causing high clinical and psychosocial suffering to those affected and their families.

Rare diseases can be:

  • degenerative;
  • proliferative.

Generally, rare diseases are chronic, progressive, and disabling and can be degenerative and lead to death, affecting the quality of life of people and their families. In addition, many of them have no cure, so the treatment consists of clinical follow-up, physiotherapy, speech therapy, and psychotherapy, among others, intending to relieve symptoms or delay their appearance.

A rare disease affects up to 65 people in every 100,000 individuals, 1.3 people in every 2,000 individuals. The exact number of rare diseases is not known. There are estimated to be between 6,000 to 8,000 different types of rare diseases worldwide.

Eighty percent (80%) of them result from genetic factors, and the rest from environmental, infectious, and immunological causes. Although they are individually rare, as a group, they affect a significant percentage of the population, which results in a relevant health problem.

IMPORTANT: Some rare diseases have their Clinical Protocols and Therapeutic Guidelines approved by the Commission

Are rare diseases curable?

Rare diseases have no cure. They are generally chronic, progressive, degenerative and can lead to death. However, adequate treatment is capable of reducing complications and symptoms, as well as preventing the aggravation and evolution of the disease. The Ministry of Health is reviewing the preparation of Clinical Protocols and Therapeutic Guidelines (PCDT) for rare diseases, seeking to unify procedures in existing documents.

Currently, there are 36 PDCTS on rare diseases, which guide doctors, nurses, nursing technicians, and other health professionals on how to diagnose, treat and rehabilitate patients, as well as pharmaceutical care in the SUS.

IMPORTANT: For rare diseases that do not yet have their protocols, such as progressive spinal amyotrophy and progressive muscular dystrophy, assistance and care for people with rare diseases will continue to follow the general care guidelines established by the SUS.

What are the main symptoms of rare diseases?

Rare diseases are characterized by a wide range of signs and symptoms and vary from infection to illness and person to person affected by the same condition.

The main signs, symptoms, and characteristics of rare diseases are:

  • Rare diseases are usually chronic, progressive, degenerative, and often life-threatening.
  • There is no existing effective cure, but there are medications to treat the symptoms.
  • They change the person’s quality of life and, often, the patient loses autonomy to walk, eat, sit, breathe.

What are the causes of rare diseases?

About 30% of patients affected by rare diseases die before age five since 75% involve children, which does not prevent adults from acquiring them.

The causes and origins of rare diseases are still unknown, but studies show that 80% of all cases have a genetic/hereditary basis, but other factors may contribute. Thus, the leading causes of rare diseases are:

  • congenital/hereditary factors;
  • bacterial or viral infections;
  • allergic and environmental infections.

Where to treat rare diseases?

Care for rare diseases is provided primarily in Primary Care, the main gateway to the SUS. If necessary, the patient will be referred to specialized care in a medium or high-complexity unit.

The Strategic Actions and Compensation Fund (FAEC) carries out the cost of procedures for diagnosing rare diseases. It is passed on to the States, Federal District, and Municipalities from the publication of the ordinance enabling the Services and production of the respective procedures in the Outpatient Information System (SIA/SUS).

Like the Ministry of Health, state and municipal managers can use their resources to provide assistance and care. Currently, the Ministry of Health has 17 qualified and specialized establishments for Rare Diseases, distributed in several federative units in Brazil.

Source: Ministério da Saúde (Acess on 19/01/2022)

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