2026-04-14T04:24:50Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/143492026-03-20T17:07:37Zcom_2072_378071com_2072_378040col_2072_378097

Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort Moreno-Martinez, David Lucas-Del-Pozo, Sara Lavalle, Lucia Ramaswami, Uma Ginsberg, Lionel Pintos-Morell, Guillem Derralynn A. Hughes Institut Català de la Salut [Moreno-Martinez D, Lavalle L, Ramaswami U] Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London, UK. [Lucas-Del-Pozo S] Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology and University College London, London, UK. Charles Dent Metabolic Unit, The National Hospital for Neurology and Neurosurgery, London, UK. [Ginsberg L] Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology and University College London, London, UK. [Pintos-Morell G] Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain Vall d'Hebron Barcelona Hospital Campus Malalties cerebrovasculars - Diagnòstic Malalties cerebrovasculars - Factors de risc Fabry, Malaltia de ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Cerebrovascular Disorders::Stroke Other subheadings::Other subheadings::/diagnosis DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic::Brain Diseases, Metabolic, Inborn::Lysosomal Storage Diseases, Nervous System::Sphingolipidoses::Fabry Disease TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::estadística como asunto::probabilidad::riesgo::factores de riesgo ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::trastornos cerebrovasculares::accidente cerebrovascular Otros calificadores::Otros calificadores::/diagnóstico ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas::enfermedades cerebrales metabólicas congénitas::enfermedades por almacenamiento lisosómico del sistema nervioso::esfingolipidosis::enfermedad de Fabry Fabry disease; Lysosomal storage disorders; Stroke Malaltia de Fabry; Trastorns d'emmagatzematge lisosomal; Ictus Enfermedad de Fabry; Trastornos de almacenamiento lisosomal; Ictus Objectives Risk factors for stroke in Fabry disease (FD) are not precisely known. This study presents a retrospective cohort analysis from one reference centre in the United Kingdom to determine risk factors for stroke and to develop a predictive model. Methods Patients > 18 years old were included in the study and were followed from their first visit until March 2019. The main outcome of the survival analysis was time to stroke. The independent risk factors were evaluated using a multivariate Cox regression. Results Of 414 patients, 368 were included in the survival analysis. 227 (61.7%) were female, with a median baseline age of 42.7 (IQR 27.8–54.8) for males and 39.9 (26.6–51.2) years for females. 56 (39.7%) males and 64 (28.2%) females had the N215S genotype. 41 patients had a stroke at baseline (11.2%), rising to 69 (18.8%) at the end—66.7% lacunar, 18.9% anterior circulation, 13% posterior circulation and 1.4% venous thrombosis. Median follow-up was 10.4 years. Median time to stroke in males and females was 43 (43–43) and 58 (58–59) years, respectively. In the multivariate analysis, a concomitant autoimmune disease was associated with an increased risk of stroke, while glomerular filtration rate > 90 and N215S genotype were associated with a decreased risk. Interpretation Sex was not associated with stroke, despite males being more severe. These results might help stratify patients and are of interest not only to metabolic physicians, but to general stroke physicians too. This work was supported by “La Caixa” Foundation (ID 100010434) with fellowship code LCF/BQ/EU20/11810050, and the MPS Society UK, via the grant Causes, prevention and treatment of stroke in Fabry Disease. 2026-03-19T07:49:30Z 2026-03-19T07:49:30Z 2025-11 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Moreno-Martinez D, Lucas-Del-Pozo S, Lavalle L, Ramaswami U, Ginsberg L, Pintos-Morell G, et al. Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort. Eur J Neurol. 2025 Nov;32(11):e70415. 1468-1331 http://hdl.handle.net/11351/14349 10.1111/ene.70415 41201212 001628900400013 https://hdl.handle.net/11351/14349 eng European Journal of Neurology;32(11) https://doi.org/10.1111/ene.70415 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess application/pdf Wiley Scientia