Clinical management of female patients with Fabry disease based on expert consensus
Brand, E. (Internal Medicine D. University Hospital Münster)
Linhart, A. (Charles University)
Deegan, P. (Addenbrookes Hospital (Cambridge, Regne Unit))
Jurcut, R. (University of Medicine and Pharmacy "Carol Davila")
Pisani, A. (Università degli studi di Napoli Federico II)
Torra Balcells, Roser (Institut de Recerca Sant Pau)
Feldt-Rasmussen, U. (Copenhagen University)
Universitat Autònoma de Barcelona

Data:	2025
Resum:	Fabry disease is an X-linked lysosomal storage disorder that causes accumulation of glycosphingolipids in body tissues and fluids, leading to progressive organ damage and life-threatening complications. It can affect both males and females and can be classified into classic or later-onset phenotypes. The disease severity in females ranges from asymptomatic to the more severe, classic phenotype. Most females are hemizygous and the X-linked inheritance is associated with variable X-activation pattern and residual enzymatic activity. The heterogeneity of clinical presentation in females requires different approaches to diagnosis and management than males. A European group of 7 physicians, experienced in the management of Fabry disease, convened to discuss patient perspectives and published guidelines. The experts discussed the need to focus on psychological treatment in relation to individual coping styles when monitoring targets, and the lack of data supporting the use of plasma globotriaosylsphingosine over enzyme activity in the diagnosis of these patients. It was suggested that the high phenotypic variability in female patients may be related to the dynamic nature of the X-chromosome inactivation process and further understanding of this process could help predict the progression of Fabry disease in females and facilitate timely intervention. Due to the range of disease severity they exhibit, female patients with Fabry disease may require a more individualized treatment approach than males. Despite current recommendations, the experts agreed that early disease-specific treatment initiation in high-risk females could improve clinical outcome.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article de revisió ; recerca ; Versió publicada
Matèria:	Early diagnosis ; Enzyme replacement therapy ; Fabry disease ; Female ; Patient-reported outcome measures
Publicat a:	Orphanet journal of rare diseases, Vol. 20 Núm. 1 (december 2025) , p. 7, ISSN 1750-1172

DOI: 10.1186/s13023-024-03500-7
PMID: 39773286

9 p, 1.0 MB

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