Clinical significance of small nerve fiber involvement in the early diagnosis and treatment of patients with Fabry disease.

Autor: Kokotis P; First Department of Neurology, Aeginition hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece. Electronic address: pkokotis@med.uoa.gr., Zompola C; Second Department of Neurology, 'Attikon' University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece., Anastasakis A; Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Athens, Greece., Damianaki A; Nephrology Department, General Hospital of Athens Ippokrateio, Athens, Greece; Service of Nephrology and Hypertension, University Hospital of Lausanne and University of Lausanne, Lausanne, Switzerland., Bountziouka C; First Department of Neurology, Aeginition hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece., Mpora M; Nephrology Department, General Hospital of Athens Ippokrateio, Athens, Greece., Papatheodorou S; Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Athens, Greece., Tsivgoulis G; Second Department of Neurology, 'Attikon' University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Jazyk: angličtina
Zdroj: Journal of the neurological sciences [J Neurol Sci] 2023 Oct 15; Vol. 453, pp. 120776. Date of Electronic Publication: 2023 Aug 25.
DOI: 10.1016/j.jns.2023.120776
Abstrakt: Introduction: Peripheral nervous system is early involved in Fabry disease (FD) and preferentially the small nerve fibers, causing the characteristic neuropathic pain crises usually beginning in childhood. Early detection of this likely underdiagnosed disease is an important approach because causal therapies are available.
Methods: We conducted a case-series study to investigate the small nerve fiber involvement in FD and its contribution to the diagnosis of the disease but also to the timely effective therapy administration. We used specific structured scales of symptoms and signs to detect peripheral neuropathy, as well as suitable functional and structural tests to diagnose the small fiber neuropathy (SFN).
Results: Twenty-seven consecutive patients (14 men, mean age 44.62 ± 10.70 years) with suspected FD were included in this study. Most of the patients presented symptoms of small nerve fiber involvement, which were accompanied by abnormal test results, fulfilling the criteria for SFN. The detection of SFN in our patients allowed the completion of the FD diagnostic criteria and thus the initiation of therapy. In five patients the SFN diagnosis determined the administration of therapy, whereas in two others it might be considered.
Conclusion: Our results further suggest the importance of early diagnosis of peripheral neuropathy, especially of small nerve fiber involvement, in patients with suspected FD as it contributes crucially not only to the diagnosis but also to the timely effective initiation of FD therapy.
(Copyright © 2023 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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