Pain in rare disorders

Rare disorders collectively affect more than 300 million people worldwide and often require lifelong multidisciplinary care. Although pain is not universal, it is a clinically important and frequently underrecognized manifestation in many rare disorders, contributing to impaired functioning, psychological distress, reduced participation and quality of life, and caregiver burden. Assessment and management are complicated by heterogeneous pain mechanisms, limited disease-specific evidence, fragmented care pathways, and a lack of standardized guidance. This Perspective proposes a clinically oriented framework for understanding and managing pain in rare disorders. Rather than reviewing individual diseases, it highlights the diversity and evolution of nociceptive, neuropathic, inflammatory, ischemic, nociplastic, and mixed pain mechanisms and the need for repeated, multidimensional, mechanism-informed assessment. Individualized management should integrate appropriate pharmacological and disease-modifying treatments with rehabilitation, psychological support, education, self-management, and multidisciplinary care. Digital health technologies may support longitudinal monitoring and access to specialist expertise, although their use requires appropriate validation and integration with clinical services. Literature was identified through searches in Oria, Oslo Metropolitan University's library discovery service, with no lower date restriction and including publications available up to June 2026.