Pain
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Severe neuropathic pain is a hallmark of Fabry disease, a genetic disorder caused by a deficiency in lysosomal α-galactosidase A. Pain experienced by these patients significantly impacts their quality of life and ability to perform everyday tasks. Patients with Fabry disease suffer from peripheral neuropathy, sensory abnormalities, acute pain crises, and lifelong ongoing pain. ⋯ This review will detail the types of pain, sensory abnormalities, influence of demographics on pain, and current strategies to treat pain experienced by patients with Fabry disease. In addition, we discuss the current knowledge of Fabry pain pathogenesis and which aspects of the disease preclinical models accurately recapitulate. Understanding the commonalities and divergences between humans and preclinical models can be used to further interrogate mechanisms causing the pain and sensory abnormalities as well as advance development of the next generation of therapeutics to treat pain in patients with Fabry disease.
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Complex regional pain syndrome (CRPS) is a severely painful condition that presents with a constellation of symptoms. The understanding of the pathophysiology of CRPS has evolved over time, as have the diagnostic criteria. Our primary objective was to identify screening and diagnostic tools for CRPS and summarize their feasibility, measurement properties, and study quality. ⋯ Because there are no extant screening tools for CRPS, all people with suspected disease should undergo rapid diagnostic assessment by a clinician. For adults, the Budapest Criteria are the preferred diagnostic tool. Future research is recommended to develop a diagnostic tool for pediatric populations and screening tools for both pediatric and adults.