Ovcharova O. M., Makukha Y. M.
СLINICAL CASE OF FABRY DISEASE
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About the author:
Ovcharova O. M., Makukha Y. M.
Heading:
CLINICAL AND EXPERIMENTAL MEDICINE
Type of article:
Scientific article
Annotation:
The article describes the clinical observation of a case of a cardiac variant of Fabry disease (FD) in a 73-year-old patient diagnosed at the terminal stage. The features of the development and course of the disease, as well as the clinical symptoms and results of instrumental and laboratory studies, are described. FD is a rare genetically determined pathology that can affect men and women and manifest itself at different ages, regardless of race. FD is an X-linked storage disease that leads to impaired glycosphingolipid metabolism due to a deficiency of lysosomal α-galactosidase. In the absence of pathogenetic treatment, FD has a progressive course and leads to death, shortening the life of patients. FD is quite difficult to diagnose, as it has no specific signs and can pose particular problems for the initial diagnosis in the practice of doctors of any speciality, including cardiologists, as changes can develop first in the cardiovascular system and then in other organs and systems. The atypical course of FD can also be associated with isolated damage to one organ: the heart, kidneys, or central nervous system (CNS). The first step in the diagnosis of FD should be an assessment of clinical manifestations, including cardiovascular manifestations, namely left ventricular hypertrophy (LVH), myocardial fibrosis, rhythm and conduction disturbances, including atrioventricular blocks and coronary artery disease. LVH in FD is mostly reversible with enzyme replacement therapy and accelerated diagnosis.
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Bibliography:
- Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J, Germain DP, et al. Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry. J Med Genet. 2016;53:495-502.
- Horovenko NH, Lishchyshyna OM, Doronina YA H. Khvoroba Fabri: klinichna nastanova, zasnovana na dokazakh. Kyyiv: Derzhavnyy expertnyy tsentr MOZ Ukrayiny; 2018. 79 s. [in Ukrainian].
- Vardarli I, Rischpler Ch, Herrmann K, Weidemann F. Diagnosis and Screening of Patients with Fabry Disease. Ther Clin Risk Manag. 2020;16:551-558.
- Nevmerzhytska LO. Khvoroba Fabri: osnovni aspekty ta kardiologichni proyavy. Zdorovya Ukrayiny. Tematychnyy nomer «Kardiolohiya Revmatolohiya Kardiokhirurhiya». 2021;3(76):19. [in Ukrainian].
- Chan B, Adam DN. A Review of Fabry Disease. Skin Therapy Lett. 2018;23(2):4-6.
- Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P. AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Circulation. 2020;142(25):e558-e631. DOI: 10.1161/CIR.0000000000000937.
- Knott KD, Augusto JB, Nordin S, Kozor R, Camaioni C, Xue H, et al. Quantitative myocardial perfusion in Fabry disease. Circ Cardiovasc Imaging. 2019;12:e008872.
- Germain DP, Elliott PM, Falissard B, Fomin VV, Hilz MJ, Jovanovic A, et al. The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: a systematic literature review by a European panel of experts. Mol Genet Metab Rep. 2019;19:e100454.
- Azevedo O, Gal A, Faria R, Gaspar P, Miltenberger-Miltenyi G, Gago F, et al. Founder effect of Fabry disease due to p.F113L mutation: clinical profile of a late-onset phenotype. Mol Genet Metab. 2020;129:150-60.
- Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, et al. ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC). European Heart Journal. 2023;44(37):3524-3628. DOI: https://doi.org/10.1093/eurheartj/ehad194
Publication of the article:
«Bulletin of problems biology and medicine», 2025 Issue 1, 176, 260-268 pages, index UDC 616.12 – 008-02:616-008.9-031.81-056.7-02:612.015.14/.16
