TY  - JOUR
A1  - Burlina, Alessandro P.
A1  - Sims, Katherine B.
A1  - Politei, Juan M.
A1  - Bennett, Gary J.
A1  - Baron, Ralf
A1  - Sommer, Claudia
A1  - Moller, Anette Torvin
A1  - Hilz, Max J.
T1  - Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel
JF  - BMC Neurology
N2  - Background: 

Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of lipids in a variety of cell types, including neural cells. Small, unmyelinated nerve fibers are particularly affected and small fiber peripheral neuropathy often clinically manifests at young age. Peripheral pain can be chronic and/or occur as provoked attacks of excruciating pain. Manifestations of dysfunction of small autonomic fibers may include, among others, impaired sweating, gastrointestinal dysmotility, and abnormal pain perception. Patients with Fabry disease often remain undiagnosed until severe complications involving the kidney, heart, peripheral nerves and/or brain have arisen. 

Methods: 

An international expert panel convened with the goal to provide guidance to clinicians who may encounter unrecognized patients with Fabry disease on how to diagnose these patients early using simple diagnostic tests. A further aim was to offer recommendations to control neuropathic pain. 

Results: 

We describe the neuropathy in Fabry disease, focusing on peripheral small fiber dysfunction - the hallmark of early neurologic involvement in this disorder. The clinical course of peripheral pain is summarized, and the importance of medical history-taking, including family history, is highlighted. A thorough physical examination (e. g., angiokeratoma, corneal opacities) and simple non-invasive sensory perception tests could provide clues to the diagnosis of Fabry disease. Reported early clinical benefits of enzyme replacement therapy include reduction of neuropathic pain, and adequate management of residual pain to a tolerable and functional level can substantially improve the quality of life for patients. 

Conclusions: 

Our recommendations can assist in diagnosing Fabry small fiber neuropathy early, and offer clinicians guidance in controlling peripheral pain. This is particularly important since management of pain in young patients with Fabry disease appears to be inadequate.
KW  - Enzyme replacement therapy
KW  - Quality of life
KW  - Small-fiber neuropathy
KW  - Rochester diabetic neuropathy
KW  - Randomized controlled trial
KW  - Agalsidase beta therapy
KW  - Outcome survey
KW  - Pharmacological management
KW  - Clinical manifestations
KW  - Alpha galactosidase
KW  - Diagnosis
KW  - Fabry
KW  - Disease
KW  - Neuropathy
KW  - Pain
KW  - Treatment
Y1  - 2011
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-135309
VL  - 11
IS  - 61
ER  - 
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  -