Rare diseases

 According to the Ministry of Health, rare diseases affect up to 65 out of every 100,000 people. Considering that there are between 6,000 and 8,000 different rare diseases, they affect a considerable percentage of the Brazilian population. The World Health Organization (WHO) estimates that 15 million Brazilians have some form of illness that falls into this category.

Because rare diseases are so diverse, affecting different organs and causing distinct symptoms, the National Policy for Comprehensive Care for People with Rare Diseases divided these diseases into two types, based on their characteristics:

Genetic origin: 80% are caused by factors linked to the patient's genetics. Some examples are inborn errors of metabolism (disorders that generally involve the production of enzymes in the body that fail to break down, store, or transport molecules within the body) and congenital or late-onset anomalies (changes that can occur during embryonic development that cause aesthetic deformities or even affect the functions of certain organs/systems).

Non-genetic origin: other diseases that can occur due to environmental factors, such as infectious, inflammatory, autoimmune, and other rare diseases of non-genetic origin.