Functional Tests and Surveys Used to Assess Nervous System Dysfunction in Patients with Fabry Disease – A Review
Introduction and Purpose: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A, leading to progressive multi-organ damage. Among the various complications, autonomic nervous system dysfunction has been suggested as a signifi...
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Nicolaus Copernicus University in Toruń
2025-01-01
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| Series: | Quality in Sport |
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| Online Access: | https://apcz.umk.pl/QS/article/view/57268 |
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| author | Stanislaw Jesionek Jakub Parys Agnieszka Mikosińska Martyna Kaźmierczak Partycja Kałuziak Marta Jajczak Maciej Mossakowski Aleksandra Witek Mateusz Litwin Justyna Jankowska |
| author_facet | Stanislaw Jesionek Jakub Parys Agnieszka Mikosińska Martyna Kaźmierczak Partycja Kałuziak Marta Jajczak Maciej Mossakowski Aleksandra Witek Mateusz Litwin Justyna Jankowska |
| author_sort | Stanislaw Jesionek |
| collection | DOAJ |
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Introduction and Purpose:
Fabry disease (FD) is a rare, X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A, leading to progressive multi-organ damage. Among the various complications, autonomic nervous system dysfunction has been suggested as a significant aspect of the disease’s pathophysiology. This review aims to evaluate functional tests and surveys used to assess nervous system dysfunction, focusing on the autonomic nervous system in FD patients.
State of Knowledge:
Fabry disease presents with classical and non-classical phenotypes, with early symptoms in males often involving pain, skin lesions, and gastrointestinal disturbances, progressing to more severe manifestations like heart failure and renal disease. The autonomic nervous system, which regulates various physiological processes, may be impaired in Fabry patients, potentially contributing to the disease’s symptoms. Functional tests such are frequently used to assess autonomic function. Studies on autonomic dysfunction in FD have provided mixed results, challenging the assumption that autonomic neuropathy plays a central role in disease progression.
Methods: A comprehensive search of references related to FDe and the autonomic nervous system was conducted on PubMed using the following search terms: “Fabry disease, autonomic nervous system, blood pressure, cold pressor test, vascular manifestations.”
Conclusions:
The findings of this review suggest that while autonomic dysfunction may be present in certain subsets of FD patients. Functional tests revealed limited evidence of widespread autonomic dysfunction. QSART showed reduced sweating responses in pain patients but no differences in non-pain patients. These results challenge the widely accepted notion that autonomic neuropathy is a major contributor to Fabry disease symptoms and emphasize the need for further research into the specific mechanisms underlying the disease's clinical manifestations.
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| format | Article |
| id | doaj-art-9f6b7bc354b844f88b9177f981f45407 |
| institution | Kabale University |
| issn | 2450-3118 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Nicolaus Copernicus University in Toruń |
| record_format | Article |
| series | Quality in Sport |
| spelling | doaj-art-9f6b7bc354b844f88b9177f981f454072025-01-14T08:22:49ZengNicolaus Copernicus University in ToruńQuality in Sport2450-31182025-01-013710.12775/QS.2025.37.57268Functional Tests and Surveys Used to Assess Nervous System Dysfunction in Patients with Fabry Disease – A ReviewStanislaw Jesionek0https://orcid.org/0009-0004-6026-702XJakub Parys1https://orcid.org/0009-0009-1955-7865Agnieszka Mikosińska2https://orcid.org/0009-0003-0891-9089Martyna Kaźmierczak3https://orcid.org/0009-0007-7798-0069Partycja Kałuziak4https://orcid.org/0009-0008-0976-1523Marta Jajczak5https://orcid.org/0009-0009-6000-7769Maciej Mossakowski6https://orcid.org/0009-0008-0423-2083Aleksandra Witek7https://orcid.org/0009-0002-1214-2199Mateusz Litwin8https://orcid.org/0009-0006-5131-1863Justyna Jankowska9https://orcid.org/0009-0006-0225-2668Pabianice Medical Center Sp. o.o., ul. Jana Pawła II 68, 95-200 Pabianice, Poland Central Clinical Hospital of Medical University of Lodz, ul. Pomorska 251, 92-213 Łódź, PolandCentral Clinical Hospital of Medical University of Lodz, ul. Pomorska 251, 92-213 Łódź, PolandCentral Clinical Hospital of Medical University of Lodz, ul. Pomorska 251, 92-213 Łódź, PolandCharles Jonscher Medical Center, ul. Milionowa 14, 93-113 Łódź, PolandUniversity Clinical Hospital No.2 of Medical University of Lodz, ul. Żeromskiego 113, 90-549 Łódź, PolandCentral Clinical Hospital of Medical University of Lodz, ul. Pomorska 251, 92-213 Łódź, PolandCentral Clinical Hospital of Medical University of Lodz, ul. Pomorska 251, 92-213 Łódź, PolandUniversity Clinical Hospital No.2 of Medical University of Lodz, ul. Żeromskiego 113, 90-549 Łódź, PolandMedical University of Lodz al. Tadeusza Kościuszki 4, 90-419 Łódź, Poland Introduction and Purpose: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A, leading to progressive multi-organ damage. Among the various complications, autonomic nervous system dysfunction has been suggested as a significant aspect of the disease’s pathophysiology. This review aims to evaluate functional tests and surveys used to assess nervous system dysfunction, focusing on the autonomic nervous system in FD patients. State of Knowledge: Fabry disease presents with classical and non-classical phenotypes, with early symptoms in males often involving pain, skin lesions, and gastrointestinal disturbances, progressing to more severe manifestations like heart failure and renal disease. The autonomic nervous system, which regulates various physiological processes, may be impaired in Fabry patients, potentially contributing to the disease’s symptoms. Functional tests such are frequently used to assess autonomic function. Studies on autonomic dysfunction in FD have provided mixed results, challenging the assumption that autonomic neuropathy plays a central role in disease progression. Methods: A comprehensive search of references related to FDe and the autonomic nervous system was conducted on PubMed using the following search terms: “Fabry disease, autonomic nervous system, blood pressure, cold pressor test, vascular manifestations.” Conclusions: The findings of this review suggest that while autonomic dysfunction may be present in certain subsets of FD patients. Functional tests revealed limited evidence of widespread autonomic dysfunction. QSART showed reduced sweating responses in pain patients but no differences in non-pain patients. These results challenge the widely accepted notion that autonomic neuropathy is a major contributor to Fabry disease symptoms and emphasize the need for further research into the specific mechanisms underlying the disease's clinical manifestations. https://apcz.umk.pl/QS/article/view/57268Fabry diseaseautonomic nervous systemblood pressurecold pressor test |
| spellingShingle | Stanislaw Jesionek Jakub Parys Agnieszka Mikosińska Martyna Kaźmierczak Partycja Kałuziak Marta Jajczak Maciej Mossakowski Aleksandra Witek Mateusz Litwin Justyna Jankowska Functional Tests and Surveys Used to Assess Nervous System Dysfunction in Patients with Fabry Disease – A Review Quality in Sport Fabry disease autonomic nervous system blood pressure cold pressor test |
| title | Functional Tests and Surveys Used to Assess Nervous System Dysfunction in Patients with Fabry Disease – A Review |
| title_full | Functional Tests and Surveys Used to Assess Nervous System Dysfunction in Patients with Fabry Disease – A Review |
| title_fullStr | Functional Tests and Surveys Used to Assess Nervous System Dysfunction in Patients with Fabry Disease – A Review |
| title_full_unstemmed | Functional Tests and Surveys Used to Assess Nervous System Dysfunction in Patients with Fabry Disease – A Review |
| title_short | Functional Tests and Surveys Used to Assess Nervous System Dysfunction in Patients with Fabry Disease – A Review |
| title_sort | functional tests and surveys used to assess nervous system dysfunction in patients with fabry disease a review |
| topic | Fabry disease autonomic nervous system blood pressure cold pressor test |
| url | https://apcz.umk.pl/QS/article/view/57268 |
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