TY  - JOUR
A1  - Politei, Juan M.
A1  - Bouhassira, Didier
A1  - Germain, Dominique P.
A1  - Goizet, Cyril
A1  - Guerrero-Sola, Antonio
A1  - Hilz, Max J.
A1  - Hutton, Elspeth J.
A1  - Karaa, Amel
A1  - Liuori, Rocco
A1  - Üceyler, Nurcan
A1  - Zeltzer, Lonnie K.
A1  - Burlina, Alessandro
T1  - Pain in fabry disease: practical recommendations for diagnosis and treatment
JF  - CNS Neuroscience & Therapeutics
N2  - 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 Wurzburg 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.
KW  - Enzyme replacement therapy
KW  - Small fiber dysfunction
KW  - System involvement
KW  - Outcome survey
KW  - Fabry disease
KW  - Randomized controlled-trial
KW  - Chronic neuropathic pain
KW  - Agalsidase beta
KW  - Screening questionnaire
KW  - Dose reduction
KW  - Adult patients
KW  - Diagnosis
KW  - Pain
KW  - Peripheral nervous system
Y1  - 2016
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-188127
VL  - 22
IS  - 7
ER  -