Objectives: To determine current activities and strategy in the field of availability and rational use of the drugs for rare diseases in the Croatian healthcare system, with the emphasis on the availability of these medicines in the European union, as well as the recommendations and guidelines of the international bodies and associations. Methods: Literature review with standard search strategies involving the querying of relevant publications and online databases including databases of centrally registered drugs for rare diseases by the European Medicines Agency and the list of drugs and expensive drugs in the framework of the National Medicines Policy. The research methodology includes methods of analysis, synthesis, induction, deduction and comparative analysis. Conclusion: Rare diseases are characterized by great diversity and complexity of symptoms and disorders. They are characterized by imbalance and deficiency in the quality of health services in the area of care and treatment. Drugs for rare diseases tend to have more difficult access to the market, often are very expensive and therefore less accessible. The costs of treating rare diseases are increasing, while 75 % of rare diseases don`t have an effective treatment. National health policy should provide special support to people suffering from rare diseases and be directed towards improving the accessibility and quality of health care of these patients, which includes ensuring the availability of medicines for rare diseases. Medical care and treatment of rare diseases must be multidisciplinary and well coordinated in specialized centers of excellence. It is essential to involve all stakeholders in the health care system in the treatment of rare diseases and interventions for the improvement of the quality of health care, rationalization of treatment and reduction of the costs of inadequate treatment outcomes. Professional competence of pharmacists in these health care services makes them indispensable health care providers in collaborative and multidisciplinary health care management of patients with rare diseases, responsible for implementation of safe and rational drug therapy.