Neurological Manifestations of Fabry Disease: Literature Review

Marina Grigolashvili; Ekaterina Kim; Shynar Muratbekova; Sholpan Omarova; Amirzhan Smagulov; Guldana Bektas; Rustam Tuleuov; Saltanat Madibraimova; Artyom Pakhomov; Olga Parkhanovich; Ekaterina Pogorelova; Gulsara Kiyakpaeva

doi:10.3889/oamjms.2022.9681

Authors

Marina Grigolashvili Department of Neurology, Psychiatry and Rehabilitation, NCJSC “Medical University of Karaganda”, Karaganda, Kazakhstan, India
Ekaterina Kim Department of Neurology, Psychiatry and Rehabilitation, NCJSC “Medical University of Karaganda”, Karaganda, Kazakhstan, India
Shynar Muratbekova Department of Neurology, Psychiatry and Rehabilitation, NCJSC “Medical University of Karaganda”, Karaganda, Kazakhstan, India
Sholpan Omarova Department of Neurology, Psychiatry and Rehabilitation, NCJSC “Medical University of Karaganda”, Karaganda, Kazakhstan, India
Amirzhan Smagulov Department of Neurology, Psychiatry and Rehabilitation, NCJSC “Medical University of Karaganda”, Karaganda, Kazakhstan, India
Guldana Bektas Department of Neurology, Psychiatry and Rehabilitation, NCJSC “Medical University of Karaganda”, Karaganda, Kazakhstan, India
Rustam Tuleuov Department of Neurology, Psychiatry and Rehabilitation, NCJSC “Medical University of Karaganda”, Karaganda, Kazakhstan, India
Saltanat Madibraimova Department of Neurology, Psychiatry and Rehabilitation, NCJSC “Medical University of Karaganda”, Karaganda, Kazakhstan, India
Artyom Pakhomov Department of Neurology, Psychiatry and Rehabilitation, NCJSC “Medical University of Karaganda”, Karaganda, Kazakhstan, India
Olga Parkhanovich Department of Neurology, Psychiatry and Rehabilitation, NCJSC “Medical University of Karaganda”, Karaganda, Kazakhstan, India
Ekaterina Pogorelova Department of Neurology, Psychiatry and Rehabilitation, NCJSC “Medical University of Karaganda”, Karaganda, Kazakhstan, India
Gulsara Kiyakpaeva Department of Neurology, Psychiatry and Rehabilitation, NCJSC “Medical University of Karaganda”, Karaganda, Kazakhstan, India

DOI:

https://doi.org/10.3889/oamjms.2022.9681

Keywords:

Anderson-fabry disease, Fabry disease, Neurological manifestations, Neuropathic pain, Stroke, Headache, Vertigo, Parkinsonism, Multiple sclerosis, Diagnosis, Treatment

Abstract

BACKGROUND: Fabry disease (FD) or Anderson FD is a hereditary disease belonging to the group of lysosomal storage diseases caused by decreased or absent activity of the enzyme α-galactosidase A. Enzyme deficiency leads to accumulation of glycospholipids in the lysosomes of cells of various organs, including the heart, kidneys, nervous system, and vascular endothelium. The complexity of the diagnosis of FD is due to the variety of its symptoms, the simultaneous involvement of many organs and systems. At present, possible pathogenetic treatment of the disease is enzyme replacement therapy, but its effectiveness is reduced in the later stages of the disease, when there are irreversible abnormal changes in vital organs and systems. In this regard, an urgent task is the early diagnosis of FD.

AIM: Determination of neurological manifestations of FD as well as clinical criteria for screening for FD.

MATERIALS AND METHODS: We analyzed cohort studies, randomized controlled trials, systematic reviews and meta-analyses, case-control studies, and case series from scientific medical databases: PubMed, Web of Science, Google Scholar in Russian, and English languages.

CONCLUSION: The authors found that lesions of the nervous system in FD are detected in more than 80% of patients and can manifest as isolated or combined lesions of both the central and peripheral and autonomic nervous systems.

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