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Chapter 5.3 - Genetic Metabolic Diseases

from 5 - Hereditary and Genetic Causes of Stroke

Published online by Cambridge University Press:  06 October 2022

Anita Arsovska
Edited by
Derya Uluduz
Anita Arsovska
Affiliation:
University of Ss Cyril and Methodius
Derya Uluduz
Affiliation:
Istanbul Üniversitesi
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Summary

Fabry disease is a rare multisystemic X-linked lysosomal storage disease characterized by lysosomal alpha-galactosidase A (α-Gal A) enzyme deficiency that results in globotriaosylceramide (Gb-3) accumulation inside the body. The incidence of the disease has been estimated to be approximately 1 in 40,000 to 1 in 117,000 in the general population. Male patients and symptomatic heterozygous females have symptoms including skin lesions, acroparesthesia, corneal and lenticular changes, abdominal pain, chronic diarrhea, proteinuria and hypohidrosis. Later, progressive vascular involvement leads to renal insufficiency, cardiovascular dysfunction and stroke. Treatment should include enzyme-replacement therapy (ERT) and adjunctive therapies under the supervision of a multidisciplinary clinical team. ERT is available in the forms of agalsidase alfa and agalsidase beta. We present a 21 year-old male with recurrent stroke and Fabry disease, treated with ERT

Keywords

Fabry diseasestrokealpha-galactosidase A enzyme deficiencyenzyme-replacement therapyagalsidase alfaagalsidase beta
Type
Chapter
Information
Rare Causes of Stroke
A Handbook
 , pp. 246 - 252
Publisher: Cambridge University Press
Print publication year: 2022

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References

Desnick, RJ, et al. α-Galactosidase A deficiency: Fabry disease. In: Scriver, CR, Beaudet, AL, Sly, WS, Valle, D. (Eds). The Metabolic and Molecular Basis of Inherited Disease, 8th Edn. New York: McGraw-Hill; 2001. 3733–3774.Google Scholar
Zarate, YA, Hopkin, RJ. Fabry’s disease. Lancet. 2008;372: 127–135.CrossRefGoogle ScholarPubMed
Vincent, T. Fabry disease: Why stroke neurologists should care. Eur Neurol Rev. 2006;2: 94–96.Google Scholar
Kolodny, E, Fellgiebel, A, Hilz, MJ, et al. Cerebrovascular involvement in Fabry disease. Stroke. 2015;46: 302–313.CrossRefGoogle ScholarPubMed
Resende de Jesus, PM, Martins, AM, Chiacchio, ND, Aranda, CS. Genital angiokeratoma in a woman with Fabry disease: the dermatologist’s role. An Bras Dermatol. 2018;93(3): 426–428.CrossRefGoogle Scholar
Gündoğdu, AA, Kotan, D, Alemdar, M, Ayas, ZÖ. Fabry disease diagnosis in a young stroke patient: A case report. Noro Psikiyatr Ars. 2018;55(3): 291–292.Google Scholar
Sims, K, Politei, J, Banikazemi, M, Lee, P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke. 2009;40: 788–794.CrossRefGoogle ScholarPubMed
Fancellu, L, Borsini, W, Romani, I. Exploratory screening for Fabry’s disease in young adults with cerebrovascular disorders in northern Sardinia. BMC Neurol. 2015;15: 256.CrossRefGoogle ScholarPubMed
Rolfs, A, Böttcher, T, Zschiesche, M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study. Lancet. 2005;366(9499): 1794–1796.CrossRefGoogle ScholarPubMed
Zhang, Y-N, Guo, ZN, Zhou, HW, et al. Fabry disease with acute cerebral infarction onset in a young patient. Chin Med J. 2019;132(4): 477–479.CrossRefGoogle ScholarPubMed
Qiao, Y, Steinman, DA, Qin, Q, et al. Intracranial arterial wall imaging using three-dimensional high isotropic resolution black blood MRI at 3.0 Tesla. J Magn Reson Imaging. 2011;34(1):22–30.CrossRefGoogle ScholarPubMed
Ortiz, A, Germain, DP, Desnick, RJ, et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4): 416–427.CrossRefGoogle ScholarPubMed
Sheng, S, Wu, L, Nalleballe, K, et al. Fabry’s disease and stroke: Effectiveness of enzyme replacement therapy (ERT) in stroke prevention, a review with meta-analysis. J Clin Neurosci. 2019;65: 83–86.CrossRefGoogle ScholarPubMed
Kargiotis, O, Psychogios, K, Safouris, A, et al. Intravenous thrombolysis for acute ischemic stroke in Fabry disease. Neurologist. 2019;24(5): 146–149.CrossRefGoogle ScholarPubMed
Saarinen, JT, Sillanpää, N, Kantola, I, et al. A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke. J Clin Neurosci. 2015;22(2): 423–425.CrossRefGoogle ScholarPubMed
Liu, D, Hu, K, Schmidt, M, et al. Value of the CHA2DS2-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation. Clin Res Cardiol. 2018;107(12): 1111–1121.CrossRefGoogle ScholarPubMed
Kang, E, Kim, Y-M, Kim, D-H, et al. Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease. Medicine (Baltimore). 2017;96(6): e6063.CrossRefGoogle ScholarPubMed
Laney, DA, Bennett, RL, Clarke, V, et al. Fabry disease practice guidelines: Recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013;22(5): 555–564.CrossRefGoogle ScholarPubMed
Wu, L-C, Chiang, C-T, Lee, K-F, et al. A case of Fabry disease presenting with young stroke and fever. Acta Neurol Taiwan. 2019;28: 52–56.Google Scholar

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