Rare conditions frequently present diagnostic and treatment challenges in internal medicine because of their infrequency and because of overlap of symptoms with more frequent diseases. Internists are important in recognizing unusual presentations, organizing genetic testing, and referring patients to specialized services. Evolution of genomics and molecular diagnostics has greatly facilitated early recognition of rare disorders.
Given the intricacies involved in rare diseases, internists stress long-term follow-up and multidisciplinary management with specialists. They also take care of the psychosocial aspects of rare disorder living, offering patients ongoing support and advocacy. This holistic approach ensures that even the rare conditions get timely and adequate treatment.