{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T11:39:57Z","timestamp":1778931597048,"version":"3.51.4"},"reference-count":59,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2024,8,21]],"date-time":"2024-08-21T00:00:00Z","timestamp":1724198400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Catania","award":["PIACERI 2020-2022"],"award-info":[{"award-number":["PIACERI 2020-2022"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Anderson\u2013Fabry disease (AFD) is a genetic lysosomal storage disorder caused by mutations in the \u03b1-galactosidase A gene, leading to impaired lysosomal function and resulting in both macrovascular and microvascular alterations. AFD patients often exhibit increased intima-media thickness (IMT) and reduced flow-mediated dilation (FMD), indicating non-atherosclerotic arterial thickening and the potential for cardiovascular events. Nailfold capillaroscopy, a non-invasive diagnostic tool, has shown potential in diagnosing and monitoring microcirculatory disorders in AFD, despite limited research. This study evaluates nailfold capillaroscopy findings in AFD patients, exploring correlations with GLA gene variant subgroups (associated with classical or late-onset phenotypes and variants of uncertain significance (VUSs)), and assessing morpho-functional differences between sexes. It aims to determine whether capillaroscopy can assist in the early identification of individuals with multiorgan vascular involvement. A retrospective observational study was conducted with 25 AFD patients from AOUP \u201cG. Rodolico-San Marco\u201d in Catania (2020\u20132023). Patients underwent genetic testing, enzyme activity evaluation, and nailfold capillaroscopy using Horus basic HS 200 videodermatoscopy. Parameters like angiotectonic disorder, vascular areas, capillary density, and intimal thickening were assessed. The study identified significant differences in capillaroscopy findings among patients with different GLA gene variant subgroups. Classic AFD variant patients showed reduced capillary length and signs of erythrocyte aggregation and dilated subpapillary plexus. No correlation was found between enzymatic activity and capillaroscopy parameters. However, Lyso-Gb3 levels were positively correlated with average capillary length (\u1fe4 = 0.453; p = 0.059). Sex-specific differences in capillaroscopy findings were observed in neoangiogenesis and average capillary length, with distinct implications for men and women. This study highlights the potential of nailfold capillaroscopy in the diagnostic process and clinical management of AFD, particularly in relation to specific GLA gene mutations, as a valuable tool for the early diagnosis and monitoring of AFD.<\/jats:p>","DOI":"10.3390\/genes15081101","type":"journal-article","created":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T03:07:38Z","timestamp":1724296058000},"page":"1101","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Relationship between Capillaroscopic Architectural Patterns and Different Variant Subgroups in Fabry Disease: Analysis of Cases from a Multidisciplinary Center"],"prefix":"10.3390","volume":"15","author":[{"given":"Denise Cristiana","family":"Faro","sequence":"first","affiliation":[{"name":"Department of Surgery and Medical-Surgical Specialties, University of Catania, 95125 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco Lorenzo","family":"Di Pino","sequence":"additional","affiliation":[{"name":"Department of Surgery and Medical-Surgical Specialties, University of Catania, 95125 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6878-9779","authenticated-orcid":false,"given":"Margherita Stefania","family":"Rodolico","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Research and Innovation, National Research Council (IRIB-CNR), Section of Catania, 95126 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3595-3461","authenticated-orcid":false,"given":"Luca","family":"Costanzo","sequence":"additional","affiliation":[{"name":"Unit of Angiology, Policlinico \u201cG. Rodolico-San Marco\u201d University Hospital, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9328-4417","authenticated-orcid":false,"given":"Valentina","family":"Losi","sequence":"additional","affiliation":[{"name":"Department of Surgery and Medical-Surgical Specialties, University of Catania, 95125 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Di Pino","sequence":"additional","affiliation":[{"name":"Department of Surgery and Medical-Surgical Specialties, University of Catania, 95125 Catania, Italy"},{"name":"Unit of Cardiology, \u201cG. Rodolico-S.Marco\u201d University Hospital, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7059-7525","authenticated-orcid":false,"given":"Ines Paola","family":"Monte","sequence":"additional","affiliation":[{"name":"Department of Surgery and Medical-Surgical Specialties, University of Catania, 95125 Catania, Italy"},{"name":"Unit of Cardiology, \u201cG. Rodolico-S.Marco\u201d University Hospital, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Monte, M.A., Veroux, M., Rodolico, M.S., Losi, V., Di Pino, L., Bella, R., Lanza, G., and Monte, I.P. (2022). Fabry\u2019s Disease: The Utility of a Multidisciplinary Screening Approach. 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