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Small fiber neuropathy in Fabry disease
Marieke Biegstraaten1, Carla E M Hollak, Mayienne Bakkers
1Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. m.biegstraaten@amc.uva.nl
Molecular Genetics and Metabolism
|April 14, 2012
Summary
Fabry disease affects small nerve fibers, potentially causing neuropathic pain. This study reviews literature and cohort data to clarify the relationship between small fiber neuropathy, pain, and disease progression.
Area of Science:
- Neurology
- Genetics
- Pain Medicine
Background:
- Fabry disease is known to affect small nerve fibers, leading to neuropathic pain.
- Small fiber neuropathy (SFN) and neuropathic pain are considered key endpoints for enzyme replacement therapy (ERT) studies.
- The precise relationship between SFN characteristics, pain, and disease progression in Fabry disease remains unclear.
Purpose of the Study:
- To provide a comprehensive overview of small nerve fiber function and structure in Fabry disease.
- To examine the relationship between SFN characteristics, pain, age, and disease severity.
- To identify consensus and controversies in the literature and propose a hypothesis on Fabry neuropathy evolution.
Main Methods:
- Systematic literature review on SFN, pain, and Fabry disease.
- Analysis of data from the Dutch Fabry cohort.
- Integration of literature findings with cohort data.
Main Results:
- Small nerve fibers are consistently affected in Fabry disease.
- Neuropathic pain is a common symptom, often starting in childhood.
- The evolution of SFN and its direct correlation with pain requires further elucidation.
Conclusions:
- Fabry disease-associated neuropathy is complex, involving small fiber dysfunction.
- Further research is needed to fully understand the progression of SFN and its impact on pain.
- A hypothesis on the evolution of neuropathy in Fabry disease is proposed based on current evidence.
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