Approximately 30 million people living in the EU suffer from a rare disease, and many of these diseases are difficult to detect and differentiate from more common diseases. In 2017 alone, the European Medicines Agency approved 19 medications with an orphan designation. While rare diseases have a broad impact on healthcare systems, individual physicians only encounter a small number of these patients throughout their career. Therefore, physicians need to follow specialized protocols to identify those who may need to be referred to different centres of excellence.
The physicians need to help patients deal with a high level of uncertainty as often a precise diagnosis is not feasible. This session will discuss best practices for diagnosing patients with rare diseases and the important role family physicians play in monitoring the medical, social, quality of life, and economic considerations for each of their patients. Also, GPs/FPs should be aware of available European resources if local experts are not available so patients can be referred to European reference networks.