Molecular Genetics and Metabolism 139 (2023)107585Contents lists available at ScienceDirectMoleculor GeneticsMolecular Genetics and MetabolismELSEVIERjournal homepage:www.elsevier.com/locate/ymgmeReview articleAn expert consensus on the recommendations for the use of biomarkersin Fabry diseaseAlessandro Burlina*,Eva Brand b,Derralynn Hughes,Ilkka Kantolad,Johannes Kramere,Albina NowakCamilla Tondel,Christoph Wanner Marco Spada'Neurological Unit,St.Bassiano Hospital Via dei Lotti 40 1-36061 Bassano del Grappa,Italyter Medicine Department of Nephrology Hypertension ad Rheumatology:Interdisciplinary Fabry Center Munster(IFAZ).University Hospita Munster,Minster.GermanyLysmS Disorders Unit.Royal FreeLondon NHS Foundtion Trst.University College London.United KingdomDivision of Medicine,Turk Uriversity Hospi Turk.FinkandPediatric Neurology and Metabolism,Department of Pediatrics and Adolescent Medicine,University of Ulm Ulm,GermanyDepartment of Erdocrinology and Clinical Nutrition,University Hospital of Zurid,Zurich,SwitzerlandDepartment of Clinical Scierce,Universiry of Bergen and Department of Poediatrics,Haukeland University Hospital,Bergen,NorwayDepartment of Internal Medicine,Division of Nephrology.Fabry Center for Interdisciplinary Therapy (FAZIT).University Hospital of Wurzburg Wiirzburg GemanyDepartment of Pediatrics,University of Torino.Torino,ItalyARTICLE INFOABSTRACTArtide history:Fabry disease is an X-linked lysosomal storage disorder caused by the accumulation of glycosphingolipids in var-Received 9 December 2022ious tissues and body fluids,leading to progressive organ damage and life-threatening complications.PhenotypicReceived in revised fomm 4 April 2023dassification is based on disease progression and severity and can be used to predict outcomes.Patients with aAccepted 14 April 2023Available online 17 April 2023dassic Fabry phenotype have little to no residual o-Gal A activity and have widespread organ involvementwhereas patients with a later-onset phenotype have residual o-GalA activity and disease progression can be lim-Keywards:ited to a single organ,often the heart.Diagnosis and monitoring of patients with Fabry disease should thereforeFabry diseasebe individualized,and biomarkers are available to support with this.Disease-specific biomarkers are useful in thebiomarkersdiagnosis of Fabry disease:non-disease-specific biomar kers may be useful to assess organ damage.For most bio-enzyme replacement therapymarkers it can be challenging to prove they translate to differences in the risk of clinical events associated withchaperone therapyFabry disease.Therefore,careful monitoring of treatment outcomes and collection of prospective data in patientstherapeutic goalare needed.As we deepen our understanding of Fabry disease,it is important to regularly re-evaluate and ap-praise published evidence relating to biomarkers.In this artide,we present the results of a literature review ofevidence published between February 2017 and July 2020 on the
