Left to themselves: Time to target chronic pain in childhood rare diseases.

Abstract Background Chronic pain is prevalent among patients with rare diseases (RDs); however, little is understood about the integration of biopsychosocial mechanisms as they relate to the unique set of clinical features and therapeutic challenges inherent in the pain conditions of patients with RDs. Methods This review presents examples of major disease categories of RD and their particular pain conditions. In addition, we provide translational evidence providing clinical and scientific rationale for psychosocially and neurodevelopmentally enriched care of RD patients with regard to their pain. Results Neurobiological and functional overlap between various RD syndromes and pain states suggests amalgamation and mutual modulation of the respective conditions. Emotional sequelae, could be construed as an emotional homologue of physical pain mediated via overlapping brain circuitry. Given their clearly defined genetic and molecular etiologies, RDs may serve as heuristic models for unraveling pathophysiological processes inherent in chronic pain. Conclusions Systematic evaluation of chronic pain in patients with RD contributes to sophisticated insight into both pain and their psychosocial correlates, which could transform treatment.