TY  - JOUR
A1  - Aster, H-C
A1  - Evdokimov, D.
A1  - Braun, A.
A1  - Üçeyler, N.
A1  - Sommer, C.
T1  - Analgesic Medication in Fibromyalgia Patients: A Cross-Sectional Study
JF  - Pain Research and Management
N2  - There is no approved drug for fibromyalgia syndrome (FMS) in Europe. In the German S3 guideline, amitriptyline, duloxetine, and pregabalin are recommended for temporary use. The aim of this study was to cross-sectionally investigate the current practice of medication in FMS patients in Germany. We systematically interviewed 156 patients with FMS, while they were participating in a larger study. The patients had been stratified into subgroups with and without a decrease in intraepidermal nerve fiber density. The drugs most commonly used to treat FMS pain were nonsteroidal anti-inflammatory drugs (NSAIDs) (41.0% of all patients), metamizole (22.4%), and amitriptyline (12.8%). The most frequent analgesic treatment regimen was “on demand” (53.9%), during pain attacks, while 35.1% of the drugs were administered daily and the remaining in other regimens. Median pain relief as self-rated by the patients on a numerical rating scale (0–10) was 2 points for NSAIDS, 2 for metamizole, and 1 for amitriptyline. Drugs that were discontinued due to lack of efficacy rather than side effects were acetaminophen, flupirtine, and selective serotonin reuptake inhibitors. Reduction in pain severity was best achieved by NSAIDs and metamizole. Our hypothesis that a decrease in intraepidermal nerve fiber density might represent a neuropathic subtype of FMS, which would be associated with better effectiveness of drugs targeting neuropathic pain, could not be confirmed in this cohort. Many FMS patients take “on-demand” medication that is not in line with current guidelines. More randomized clinical trials are needed to assess drug effects in FMS subgroups.
KW  - Fibromyalgia
KW  - analgesic medication
KW  - study
Y1  - 2022
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-300578
VL  - 2022
ER  - 
TY  - JOUR
A1  - Rickert, V.
A1  - Wagenhäuser, L.
A1  - Nordbeck, P.
A1  - Wanner, C.
A1  - Sommer, C.
A1  - Rost, S.
A1  - Üçeyler, N.
T1  - Stratification of Fabry mutations in clinical practice: a closer look at α‐galactosidase A‐3D structure
JF  - Journal of Internal Medicine
N2  - Background
Fabry disease (FD) is an X‐linked lysosomal storage and multi‐system disorder due to mutations in the α‐galactosidase A (α‐GalA) gene. We investigated the impact of individual amino acid exchanges in the α‐GalA 3D‐structure on the clinical phenotype of FD patients.

Patients and methods
We enrolled 80 adult FD patients with α‐GalA missense mutations and stratified them into three groups based on the amino acid exchange location in the α‐GalA 3D‐structure: patients with active site mutations, buried mutations and other mutations. Patient subgroups were deep phenotyped for clinical and laboratory parameters and FD‐specific treatment.

Results
Patients with active site or buried mutations showed a severe phenotype with multi‐organ involvement and early disease manifestation. Patients with other mutations had a milder phenotype with less organ impairment and later disease onset. α‐GalA activity was lower in patients with active site or buried mutations than in those with other mutations (P < 0.01 in men; P < 0.05 in women) whilst lyso‐Gb3 levels were higher (P < 0.01 in men; <0.05 in women).

Conclusions
The type of amino acid exchange location in the α‐GalA 3D‐structure determines disease severity and temporal course of symptom onset. Patient stratification using this parameter may become a useful tool in the management of FD patients.
KW  - Fabry disease
KW  - Fabry genotype
KW  - Fabry phenotype
KW  - lyso‐Gb3
KW  - α‐GalA 3D‐structure
Y1  - 2020
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-218125
VL  - 288
IS  - 5
SP  - 593
EP  - 604
ER  -