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Rare Diseases

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Upon realization that receiving a diagnosis of a rare disease is something challenging to both the patient and their families, Hospital Nove de Julho has an Outpatient Clinic for Rare Diseases at the Centro de Medicina Especializada [Specialized Medicine Center] (CME) to provide attention to these cases. Coordinated by Dr. Leonardo Oliveira Mendonça, immunologist and allergist, specialist in auto-inflammatory diseases and immunoderegulatory syndromes, the service caters to adults and children.   

What is considered a rare disease?  
A rare disease is characterized by an exaggerated response to immune system stimuli. To the World Health Organization (WHO), rare disease is the one that affects up to 65 people in every 100,000 individuals. In the European Union, for example, it is estimated that 24 to 36 million people suffer from rare diseases. 

 Most recurrent diseases 
Among the rare diseases, the most common are the Periodic Febrile Syndrome with Adenomegaly, Thrush and Pharyngitis (PFAPA) and the Familial Mediterranean Fever. Both are more common in children, but cases have been reported in adults, especially Familial Fever. These diseases affect both men and women.  

Risk factors 
Normally, these diseases are genetic in origin, which means that just belonging to a family (or having consanguinity) that carries genes is enough to develop these diseases. Allergic diseases can be associated with rare diseases, but they are generally neither risk factors nor considered rare.  

 Treatment of rare syndromes 
The treatment of these diseases is aimed at blocking the immune system with the use of specific medications. 

To schedule consultations and exams, call 11 3147-9430.