{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T01:25:55Z","timestamp":1767921955165,"version":"3.49.0"},"reference-count":90,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2017,6,11]],"date-time":"2017-06-11T00:00:00Z","timestamp":1497139200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diseases"],"abstract":"<jats:p>Anderson\u2013Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus. Lyso-GB3 is a valuable biomarker to establish the diagnosis. Proteinuria and creatinine are the most valuable to detect renal damage. Troponin I and high-sensitivity assays for cardiac troponin T can identify patients with cardiac lesions, but new techniques of cardiac imaging are essential to detect incipient damage. Specific cerebrovascular imaging findings are present in AFD patients. Techniques as metabolomics and proteomics have been developed in order to find an AFD fingerprint. Lyso-GB3 is important for evaluating the pathogenic mutations and monitoring the response to treatment. Many biomarkers can detect renal, cardiac and cerebrovascular involvement, but none of these have proved to be important to monitoring the response to treatment. Imaging features are preferred in order to find cardiac and cerebrovascular compromise in AFD patients.<\/jats:p>","DOI":"10.3390\/diseases5020015","type":"journal-article","created":{"date-parts":[[2017,6,12]],"date-time":"2017-06-12T10:27:59Z","timestamp":1497263279000},"page":"15","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Biomarkers and Imaging Findings of Anderson\u2013Fabry Disease\u2014What We Know Now"],"prefix":"10.3390","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3903-0170","authenticated-orcid":false,"given":"Idalina","family":"Beir\u00e3o","sequence":"first","affiliation":[{"name":"Service of Nephrology, Centro Hospitalar do Porto, 4099-001 Porto, Portugal"},{"name":"Biomedical Sciences Institute of Abel Salazar, University of Porto, 4050-313 Porto, Portugal"}]},{"given":"Ana","family":"Cabrita","sequence":"additional","affiliation":[{"name":"Service of Nephrology, Centro Hospitalar do Algarve, 8000-386 Faro, Portugal"}]},{"given":"M\u00e1rcia","family":"Torres","sequence":"additional","affiliation":[{"name":"Service of Cardiology, Centro Hospitalar do M\u00e9dio Ave, 4780-371 Santo Tirso, Portugal"}]},{"given":"Fernando","family":"Silva","sequence":"additional","affiliation":[{"name":"Service of Neurology, Centro Hospitalar e Universit\u00e1rio de Coimbra, 3000-375 Coimbra, Portugal"}]},{"given":"Patr\u00edcio","family":"Aguiar","sequence":"additional","affiliation":[{"name":"Internal Medicine Department\u2014Hospital de Santa Maria\/Centro Hospitalar Lisboa Norte, 1750-141 Lisboa, Portugal"}]},{"given":"Francisco","family":"Laranjeira","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica Jacinto Magalh\u00e3es, Centro Hospitalar do Porto, 4001-099 Porto, Portugal"}]},{"given":"Ana Marta","family":"Gomes","sequence":"additional","affiliation":[{"name":"Service of Nephrology, Centro Hospitalar de Vila Nova de Gaia\/Espinho, 4434-502 Vila Nova de Gaia, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2017,6,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Germain, D.P. 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