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Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study
Zitieren Sie bitte immer diese URN: urn:nbn:de:bvb:20-opus-232019
- 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 patientsBackground 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.…
Autor(en): | Nadine Egenolf, Caren Meyer zu Altenschildesche, Luisa Kreß, Katja Eggermann, Barbara Namer, Franziska Gross, Alexander Klitsch, Tobias Malzacher, Daniel Kampik, Rayaz A. Malik, Ingo Kurth, Claudia Sommer, Nurcan Üçeyler |
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URN: | urn:nbn:de:bvb:20-opus-232019 |
Dokumentart: | Artikel / Aufsatz in einer Zeitschrift |
Institute der Universität: | Medizinische Fakultät / Neurologische Klinik und Poliklinik |
Sprache der Veröffentlichung: | Englisch |
Titel des übergeordneten Werkes / der Zeitschrift (Englisch): | Therapeutic Advances in Neurological Disorders |
ISSN: | 1756-2864 |
Erscheinungsjahr: | 2021 |
Band / Jahrgang: | 14 |
Originalveröffentlichung / Quelle: | Therapeutic Advances in Neurological Disorders (2021) 14: 1-13. https://doi.org/10.1177/17562864211004318 |
DOI: | https://doi.org/10.1177/17562864211004318 |
Allgemeine fachliche Zuordnung (DDC-Klassifikation): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Freie Schlagwort(e): | algorithm; diagnosis; neurological examination; skin punch biopsy; small fiber neuropathy |
Datum der Freischaltung: | 26.03.2022 |
Datum der Erstveröffentlichung: | 01.03.2021 |
Open-Access-Publikationsfonds / Förderzeitraum 2021 | |
Lizenz (Deutsch): | CC BY-NC: Creative-Commons-Lizenz: Namensnennung, Nicht kommerziell |