Google Scholar | Citations: 16429| h-index: 32 | i10-index: 482
Neurological manifestations and general aspects of Anderson-Fabry
PDF (Portuguese (Brazil))

Keywords

Alfa-galactosidasa
Enfermedad de Fabry
Manifestaciones neurológicas

How to Cite

Neurological manifestations and general aspects of Anderson-Fabry. (2023). Electronic Journal Collection Health, 23(2), e11522. https://doi.org/10.25248/reas.e11522.2023

Copyright © | All rights reserved.

The journal holds the exclusive copyright for the publication of this article under the terms of Brazilian law 9610/98.

Partial reproduction
The use of parts of the texts, figures and questionnaire of the article is free, being mandatory the citation of the authors and journal.

Total reproduction
It is expressly prohibited and must be authorized by the journal.

Abstract

Objective: To identify the neurological manifestations present in Fabry Disease (FD), is to update the theme in the national literature. Bibliographic review: The resulting effect of deposition is generalized inflammation and vasculopathy, which can also affect the individual's central and peripheral nervous system. FD evolves with renal dysfunction, skin angiokeratoma, cardiomyopathy, cerebrovascular events and neurological disorders. The neurological manifestations of FD are summarized with emphasis on cerebral vasculopathy, cochlear nerve dysfunction, psychiatric and cognitive symptoms, autonomic dysfunction, and peripheral neuropathy. Enzyme replacement therapy provides more prominent effects when given early in life, which makes diagnosing FD as early as possible essential. Final considerations: FD is a rare pathology, but very underdiagnosed. It is a systemic disease, and it is extremely important to recognize neurological changes and other systems, which must be recognized by health professionals. Early diagnosis and effective treatment prevent injuries to various organs, improving patient survival.

PDF (Portuguese (Brazil))

References

ABENSUR H. Doença de Fabry: pacientes em risco no Brasil. Brazilian Journal of Nephrology, 2021; 43: 5-6.

ALI N, et al. Treatment of depression in adults with Fabry disease. JIMD Reports, Springer, Berlin, Heidelberg, 2017; 38: 13-21.

BARBOSA ACS. Abordagens Terapêuticas em Doenças Hereditárias do Metabolismo dos Esfingolípidos. Tese de Doutorado. Universidade Fernando Pessoa (Portugal). 2011.

BLANCO PP et al. Manifestaciones otológicas en la enfermedad de Fabry-Anderson. Acta Otorrinolaringológica Española, 2006; 57(2): 115-117.

BRASILEIRO FILHO. Patologia Geral. 9 a edição. Editora Guanabara. Koogan S.A., Rio de Janeiro, RJ, 2016.

BROOKS JBB, FRAGOSO YD. Neurological manifestations in Fabry disease. Neuroimmunology and Neuroinflammation, 2016; 3: 228-231.

BOGGIO P, et al. Doença de Fabry. Anais Brasileiros de Dermatologia, 2009; 84: 367-376.

BOLSOVER FE, et al. Cognitive dysfunction and depression in Fabry disease: a systematic review. Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism, 2014; 37(2): 177-187.

BURLINA A, et al. The central nervous system involvement in Fabry disease: a review. Journal of Inborn Errors of Metabolism and Screening, 2019; 4.

CHAN B, ADAM DNA. Review of Fabry Disease. Skin therapy letter, 2018; 23(2): 4-6.

CHOWDHURY MU, HOLT PJA. Pain in Anderson-Fabry's disease. The Lancet, 2001; 357(9259): 887.

CLARKE JTR. Narrative review: Fabry disease. Annals of internal medicine, 2007; 146(6): 425-433.

COLE AL, et al. Depression in adults with Fabry disease: a common and under‐diagnosed

problem. Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism, 2007; 30(6): 943-951.

EL-ABASSI R, et al. Fabry's disease. Journal of the neurological sciences, 2014; 344(1-2): 5-19.

FAZEKAS F, et al. MRI in acute cerebral ischemia of the young: the Stroke in Young Fabry Patients (sifap1) Study. Neurology, 2013; 81(22): 1914-1921.

GERMAIN DP. Fabry disease. Orphanet journal of rare diseases, 2010; 5(1): 1-49.

KOLODNY E, et al. Cerebrovascular involvement in Fabry disease: current status of knowledge. Stroke, 2015; 46(1): 302-313.

MACDERMOT KD, et al. Doença de Anderson-Fabry: manifestações clínicas e impacto da doença em uma coorte de 98 homens hemizigóticos. J Med Genet, 2001; 38: 750-760.

MAIA FMO, et al. Perfil epidemiológico de eventos vasculares cerebrais em pacientes jovens internados em 4 unidades de AVC do Hospital Geral de Fortaleza com ênfase em doença de Fabry. 2017.

MEHTA A, GINSBERG L. Natural history of the cerebrovascular complications of Fabry disease. Acta paediatrica, 2005; 94: 24-27.

MICHAUD M, et al. Maladie de Fabry: quand y penser?. La Revue de Médecine Interne, 2021; 42(2): 110-119.

MICHAUD M, et al. When and how to diagnose Fabry disease in clinical pratice. The American Journal of the Medical Sciences, 2020; 360(6): 641-649.

MØLLER AT, JENSEN TS. Neurological manifestations in Fabry's disease. Nature Clinical Practice Neurology, 2007; 3(2): 95-106.

MOORE DF, et al. The cerebral vasculopathy of Fabry disease. Journal of the neurological sciences, 2007; 257(1-2): 258-263.

MROCZEK M, et al. Neuropsychiatric Symptoms and Their Association With Sex, Age, and Enzyme Replacement Therapy in Fabry Disease: A Systematic Review. Frontiers in psychiatry, 2022; 13.

MULTICARE PHARMACEUTICAS LTDA. GALAFOLD. Bula profissional. 2020.

RANIERI M, et al. Fabry disease: recognition, diagnosis, and treatment of neurological features. Current treatment options in neurology, 2016; 18(7): 1-18.

ROY D. Neuropsychiatric and behavioural manifestation in a rare lysosomal storage disorder (Fabry's Disease): A case study. European Psychiatry, 2017; 41(S1): s504-s503.

SAWADA J, et al. Characteristics of neurological symptoms in adult Japanese patients with Fabry disease. Internal Medicine, 2021; 6420-20.

SCHIFFMANN R, et al. Is it Fabry disease?. Genetics in Medicine, 2016; 18(12): 1181-1185.

SCHIFFMANN R, MOORE, DF. Neurological manifestations of Fabry disease. Fabry disease: perspectives from 5 years of FOS, 2006.

SCRIVER CR. The metabolic & molecular bases of inherited disease. McGraw-Hill, 2001.

SIMONCINI C, et al. Oxidative stress biomarkers in Fabry disease: is there a room for them?. Journal of Neurology, 2020; 267(12): 3741-3752.

SODI A, et al. Ocular manifestations of Fabry’s disease: data from the Fabry Outcome Survey. British Journal of Ophthalmology, 2007; 91: 210-214.

SOUZA MV, et al. High cost drugs for rare diseases in Brazil: the case of lysosomal storage disorders. Cien Saude Colet, 2010; 15(Suppl 3): 3443-3454.

TUTTOLOMONDO A, et al. Anderson-Fabry disease: a multiorgan disease. Current Pharmaceutical Design, 2013; 19(33): 5974-5996.

VARDARLI I, et al. Diagnosis and screening of patients with Fabry disease. Therapeutics and clinical risk management, v. 16, p. 551, 2020.