TY  - JOUR
A1  - Egenolf, Nadine
A1  - Altenschildesche, Caren Meyer zu
A1  - Kreß, Luisa
A1  - Eggermann, Katja
A1  - Namer, Barbara
A1  - Gross, Franziska
A1  - Klitsch, Alexander
A1  - Malzacher, Tobias
A1  - Kampik, Daniel
A1  - Malik, Rayaz A.
A1  - Kurth, Ingo
A1  - Sommer, Claudia
A1  - Üçeyler, Nurcan
T1  - Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study
JF  - Therapeutic Advances in Neurological Disorders
N2  - 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.
KW  - algorithm
KW  - diagnosis
KW  - neurological examination
KW  - skin punch biopsy
KW  - small fiber neuropathy
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-232019
SN  - 1756-2864
VL  - 14
ER  -