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Papers of the Week

Papers: 28 Nov 2020 - 4 Dec 2020

2020 Nov 30


Fabry disease pain: patient and preclinical parallels.


Burand AJ, Stucky CL
Pain. 2020 Nov 30.
PMID: 33259456.


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. Fabry patients suffer from peripheral neuropathy, sensory abnormalities, acute pain crises, and lifelong ongoing pain. Although treatment of pain through medication and enzyme replacement therapy (ERT) exists, pain persists in many of these patients. Some has been learned in the past decades regarding clinical manifestations of pain in Fabry disease and the pathological effects of α-Galactosidase A insufficiency in neurons. Still, it is unclear how pain and sensory abnormalities arise in Fabry patients and how these can be targeted with therapeutics. Our knowledge is limited in part due to the lack of adequate preclinical models to study the disease. This review will detail the types of pain, sensory abnormalities, influence of demographics on pain, and current strategies to treat pain experienced by Fabry patients. 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 utilized 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 Fabry patients.