Status of Rare Diseases from the perspective of Internal Medicine in Portugal

Abstract

In Portugal, it is estimated that there are about six hundred to eight hundred thousand people with rare diseases. About 80% are of genetic origin. Usually chronic and debilitating, they have a strong family, social and health system impact. Rare dis- eases usually have a late diagnosis, in about 25% of patients the diagnosis is made 5 to 13 years after the first symptoms, according to the interna- tional literature