<h4>Background</h4>Chronic pain is prevalent among patients with rare diseases (RDs). However, little is understood about how biopsychosocial mechanisms may be integrated in the unique set of clinical features and therapeutic challenges inherent in their pain conditions.<h4>Methods</h4>This review presents examples of major categories of RDs with particular pain conditions. In addition, we provide translational evidence on clinical and scientific rationale for psychosocially- and neurodevelopmentally-informed treatment of pain in RD patients.<h4>Results</h4>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.<h4>Conclusions</h4>Systematic evaluation of chronic pain in patients with RD contributes to sophisticated insight into both pain and their psychosocial correlates, which could transform treatment.
Neurosci Biobehav Rev (Neuroscience and biobehavioral reviews)
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