Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study
Egenolf N, Zu Altenschildesche CM, Kress L, Eggermann K, Namer B, Gross F, Klitsch A, Malzacher T, Kampik D, Malik RA, Kurth I, Sommer C, Uceyler N (2021)
Publication Type: Journal article
Publication year: 2021
Journal
Book Volume: 14
DOI: 10.1177/17562864211004318
Abstract
Background and aims: Small fiber neuropathy (SFN) is increasingly suspected in patients with pain of uncertain origin, and making the diagnosis remains a challenge lacking a diagnostic gold standard. Methods: In this case–control study, we prospectively recruited 86 patients with a medical history and clinical phenotype suggestive of SFN. Patients underwent neurological examination, quantitative sensory testing (QST), and distal and proximal skin punch biopsy, and were tested for pain-associated gene loci. Fifty-five of these patients additionally underwent pain-related evoked potentials (PREP), corneal confocal microscopy (CCM), and a quantitative sudomotor axon reflex test (QSART). Results: Abnormal distal intraepidermal nerve fiber density (IENFD) (60/86, 70%) and neurological examination (53/86, 62%) most frequently reflected small fiber disease. Adding CCM and/or PREP further increased the number of patients with small fiber impairment to 47/55 (85%). Genetic testing revealed potentially pathogenic gene variants in 14/86 (16%) index patients. QST, QSART, and proximal IENFD were of lower impact. Conclusion: We propose to diagnose SFN primarily based on the results of neurological examination and distal IENFD, with more detailed phenotyping in specialized centers.
Authors with CRIS profile
Involved external institutions
Julius-Maximilians-Universität Würzburg
Germany (DE)
Rheinisch-Westfälische Technische Hochschule (RWTH) Aachen
Germany (DE)
Sidra Medical and Research Center
Qatar (QA)
Germany (DE)
Rheinisch-Westfälische Technische Hochschule (RWTH) Aachen
Germany (DE)
Sidra Medical and Research Center
Qatar (QA)
How to cite
APA:
Egenolf, N., Zu Altenschildesche, C.M., Kress, L., Eggermann, K., Namer, B., Gross, F.,... Uceyler, N. (2021). Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study. Therapeutic Advances in Neurological Disorders, 14. https://doi.org/10.1177/17562864211004318
MLA:
Egenolf, Nadine, et al. "Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study." Therapeutic Advances in Neurological Disorders 14 (2021).
BibTeX: Download