Journal of Angiotherapy
Angiogenesis, Inflammation & Therapeutics | Online ISSN  2207-872X
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Contents Vol 8 (1)

Emerging Insights into Fabry Disease: Pathophysiology, Diagnosis, and Multidisciplinary Management Approaches

Mohammed Ziad Aldaajani¹, Abdulmajeed Muhayya Almutairi¹*, Eissa Homuday Almuteriee¹, Abdullah Saleh Almorshed¹, Abdullah Abdulrahman Alrbian¹, Majed Suliman Alwalie¹, Adel Lafi Alharbi¹, Fahad Hamdi Khalif ALAnazi¹, Maha Mahdi Alanazi¹, Saleh Ali Saleh Al Salloum¹, Turki Suleiman Aqeel Al-Shammari¹, Abdulellah Abdulqader Kassar¹, Badi Talea Alharbi¹, Sarah Rakad Karim Al-Shammari¹

+ Author Affiliations

Journal of Angiotherapy 8 (1) 1-9 https://doi.org/10.25163/angiotherapy.8110085

Submitted: 22 November 2023 Revised: 14 January 2024  Published: 15 January 2024 

Abstract

Background: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder caused by a deficiency in the enzyme alpha-galactosidase A (α-Gal A), leading to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), in lysosomes. This accumulation results in multisystemic dysfunction, affecting primarily the renal, cardiovascular, and neurological systems. The disease presents with a spectrum of clinical manifestations, ranging from mild to severe, and poses a diagnostic challenge due to its overlap with more common conditions. Early identification is crucial for effective management. Methods: This review synthesizes current literature on Fabry disease, focusing on its pathophysiology, clinical presentation, diagnostic approaches, and therapeutic strategies. Genetic testing, biomarker assays, and enzyme replacement therapy (ERT) are discussed as essential diagnostic and treatment tools. Recent advancements in therapies, including gene therapy and substrate reduction, are explored. Results: Fabry disease manifests with a range of symptoms including neuropathic pain, angiokeratomas, gastrointestinal issues, renal complications, and cardiac hypertrophy. Females, due to X-chromosome inactivation, present with variable symptoms, while males typically exhibit more severe manifestations. Early diagnosis through genetic testing and biomarkers, such as plasma globotriaosylsphingosine (lyso-Gb3), has enhanced diagnostic accuracy. ERT, although effective in slowing disease progression, remains non-curative. Emerging therapies, including gene therapy, show promise in addressing the disease’s underlying causes and improving long-term outcomes. Conclusion: Fabry disease is a complex, systemic disorder that requires a multidisciplinary approach for diagnosis and management. Genetic analysis, enzyme assays, and biomarkers are crucial for accurate diagnosis, while ERT remains the cornerstone of treatment. Despite therapeutic advancements, there remains an unmet need for curative treatments. Early diagnosis and intervention are key to improving patient outcomes and preventing irreversible organ damage. Continued research into novel therapies and diagnostic tools is essential to enhance care for individuals affected by Fabry disease.

Keywords: Fabry disease, Lysosomal storage disorder, Alpha-galactosidase A, Enzyme replacement therapy, Multisystemic complications

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