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Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study
Nadine Egenolf1, Caren Meyer Zu Altenschildesche1, Luisa Kreß1
1Department of Neurology, University of Würzburg, Germany.
Therapeutic Advances in Neurological Disorders
|August 2, 2021
Summary
Diagnosing small fiber neuropathy (SFN) can be challenging. This study found that neurological examination and distal skin biopsy (IENFD) are key, with advanced tests improving diagnostic yield in complex cases.
Area of Science:
- Neurology
- Clinical Diagnostics
- Nerve Conduction Studies
Background:
- Small fiber neuropathy (SFN) is often suspected in unexplained pain.
- Diagnosing SFN is challenging due to the lack of a definitive gold standard.
Purpose of the Study:
- To evaluate diagnostic methods for small fiber neuropathy (SFN).
- To identify the most effective combination of tests for SFN diagnosis.
Main Methods:
- Prospective case-control study of 86 patients with suspected SFN.
- Utilized neurological examination, quantitative sensory testing (QST), skin biopsy (IENFD), genetic testing, corneal confocal microscopy (CCM), and pain-related evoked potentials (PREP).
Main Results:
- Abnormal distal intraepidermal nerve fiber density (IENFD) and neurological examination were most indicative of SFN.
- Adding CCM and/or PREP increased SFN detection rates.
- Genetic variants found in 16% of patients; QST, QSART, and proximal IENFD had lower diagnostic impact.
Conclusions:
- Propose diagnosing SFN using neurological examination and distal IENFD as primary methods.
- Recommend specialized phenotyping in centers for complex cases.
