Politei, JM;
Bouhassira, D;
Germain, DP;
Goizet, C;
Guerrero-Sola, A;
Hilz, MJ;
Hutton, EJ;
... Burlina, A; + view all
(2016)
Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.
CNS Neuroscience & Therapeutics
, 22
(7)
pp. 568-576.
10.1111/cns.12542.
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Abstract
AIMS: Patients with Fabry disease (FD) characteristically develop peripheral neuropathy at an early age, with pain being a crucial symptom of underlying pathology. However, the diagnosis of pain is challenging due to the heterogeneous and nonspecific symptoms. Practical guidance on the diagnosis and management of pain in FD is needed. METHODS: In 2014, experts met to discuss recent advances on this topic and update clinical guidance. RESULTS: Emerging disease-specific tools, including FabryScan, Fabry-specific Pediatric Health and Pain Questionnaire, and Würzburg Fabry Pain Questionnaire, and more general tools like the Total Symptom Score can aid diagnosis, characterization, and monitoring of pain in patients with FD. These tools can be complemented by more objective and quantifiable sensory testing. In male and female patients of any age, pain related to FD can be an early indication to start disease-specific enzyme replacement therapy before potentially irreversible organ damage to the kidneys, heart, or brain occurs. CONCLUSION: To improve treatment outcomes, pain should be diagnosed early in unrecognized or newly identified FD patients. Treatment should include: (a) enzyme replacement therapy controlling the progression of underlying pathology; (b) adjunctive, symptomatic pain management with analgesics for chronic neuropathic and acute nociceptive, and inflammatory or mixed pain; and (c) lifestyle modifications.
| Type: | Article |
|---|---|
| Title: | Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/cns.12542 |
| Publisher version: | http://doi.org/10.1111/cns.12542 |
| Language: | English |
| Additional information: | © 2016 The Authors. CNS Neuroscience & Therapeutics published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. |
| Keywords: | Diagnosis; Enzyme replacement therapy; Fabry disease; Pain; Peripheral nervous system |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1536080 |
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