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Aguiar. Rare Dis Orphan Drugs J 2024;3:13 Rare Disease and
DOI: 10.20517/rdodj.2023.56
Orphan Drugs Journal

Review Open Access

Biomarkers in anderson-Fabry disease: what should
we use in the clinical practice?

Patrício Aguiar 1,2
1
Reference Center in Inherited Metabolic Disorders, Medicine Department, Centro Hospitalar e Universitário Lisboa Norte,
Lisbon 1649-035, Portugal.
2
Faculty of Medicine, University of Lisbon, Lisbon 1649-035, Portugal.
Correspondence to: Prof. Patrício Aguiar, Reference Center in Inherited Metabolic Disorders, Medicine Department, Centro
Hospitalar e Universitário Lisboa Norte, Lisbon 1649-035, Portugal. E-mail: patricio.aguiar@edu.ulisboa.pt

How to cite this article: Aguiar P. Biomarkers in anderson-Fabry disease: what should we use in the clinical practice? Rare Dis
Orphan Drugs J 2024;3:13. https://dx.doi.org/10.20517/rdodj.2023.56

Received: 30 Nov 2023 First Decision: 6 Feb 2024 Revised: 2 Apr 2024 Accepted: 16 Apr 2024 Published: 25 Apr 2024

Academic Editor: Guillem Pintos-Morell Copy Editor: Fangling Lan Production Editor: Fangling Lan

Abstract
Major organ involvement in Anderson-Fabry disease (FD) is clinically silent for a long period and clinically
heterogeneous; thus, it is difficult to identify the patients at increasing risk of a progressive disorder. Moreover,
accumulating evidence suggests that early disease-specific treatment (DST) is safe and effective in preventing the
progression of heart and kidney damage, with poorer results in patients with extensive myocardial fibrosis,
advanced glomerulosclerosis, and/or heavy proteinuria. Therefore, biomarkers defining preclinical involvement,
with a prognostic value and a correlation with response to treatment, are an urgent need in FD. Several types of
biomarkers are recognized in FD, pertaining to total disease burden and specific organ involvement (central
nervous system, heart, and kidney). Currently, plasma globotriaosylsphingosine (lyso-Gb3), cardiac and brain
imaging, and albuminuria are recognized as the “gold standard” biomarkers of total disease burden or specific
organ involvement in FD. However, severe globotriaosylceramide (Gb3) storage and organ damage may occur
within the affected organs with minimal changes in these standard tests. Given the heterogeneity and rarity of the
disease, the identification of new biomarkers is challenging. Several ways may be used to identify new biomarkers
in FD, namely “omic” medicine, biomarkers identified in other pathological models similar to FD, and biomarkers
linked to the pathophysiological pathways involved in FD. This article aims to review the clinical value of the
available biomarkers in FD and give an overview of the research on new biomarkers.

Keywords: Anderson-Fabry disease, biomarkers, lyso-Gb3, cardiac imaging, albuminuria

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
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