Introduction: Rare diseases, although they affect a low population percentage, are a priority for the country's healthcare system, on account of lack of an entirely comprehensive customer care scheme, high costs, social rejection, absence of skilled professionals, trained to handle this kind of diseases and social inequity. Objectives: Identify the best practices and healthcare actions based on a systematic literature review. Methods: A systematic review was conducted under the PRISMA methodology in PUBMED, COCHRANE DATABASE- WILEY, LILACS, EMBASE, OVID databases and grey literature published between 2014 and 2019 including records in English and Spanish. Subsequently, the quality of systematic reviews was carried out using the AMSTAR matrix, and for the qualification of cohort studies Scottish Intercollegiate Guidelines Network (SIGN) tool was applied. Results: A total of 1900 articles were identified, of which 16 systematic reviews, 7 cohort studies and 172 panoramic reviews were selected by inclusion criteria for a total of 195 articles, however, only 16 were considered as high-quality content. The results emerged the need for a healthcare system specialized in rare diseases, that provides the population with optimum coverage. Among the exposed limitations, the more significant ones are disease diagnosis, treatment and monitoring, lack of classification and recording systems, the constraint of medication access, policies development, limited investigation and scientific proof as direct cause. However, the importance of development of new laws which allow alliances between governments, pharmaceutical companies and healthcare organizations that prioritize the comprehensive care of these patients must be noted. Conclusions: a solid database and information systems based on technological improvements that encourage drug development and investigation have to be established. Likewise, planning, follow up and enforcement of policies and strategies that ensure prompt access to healthcare services.
