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European expert consensus statement on therapeutic goals in Fabry disease
C. Wanner, M. Arad, R. Baron, A. Burlina, PM. Elliott, U. Feldt-Rasmussen, VV. Fomin, DP. Germain, DA. Hughes, A. Jovanovic, I. Kantola, A. Linhart, R. Mignani, L. Monserrat, M. Namdar, A. Nowak, JP. Oliveira, A. Ortiz, M. Pieroni, M. Spada, A....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem, přehledy
- MeSH
- enzymová substituční terapie normy MeSH
- Fabryho nemoc terapie MeSH
- konsensus MeSH
- lidé MeSH
- znalecký posudek * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- Geografické názvy
- Evropa MeSH
BACKGROUND: Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry disease is an X-linked disorder, both genders may be affected, but generally to a lesser extent in females. The disease spectrum ranges from classic early-onset disease to non-classic later-onset phenotypes, with complications occurring in multiple organs or being confined to a single organ system depending on the stage of the disease. The impact of therapy depends upon patient- and disease-specific factors and timing of initiation. METHODS: A European panel of experts collaborated to develop a set of organ-specific therapeutic goals for Fabry disease, based on evidence identified in a recent systematic literature review and consensus opinion. RESULTS: A series of organ-specific treatment goals were developed. For each organ system, optimal treatment strategies accounted for inter-patient differences in disease severity, natural history, and treatment responses as well as the negative burden of therapy and the importance of multidisciplinary care. The consensus therapeutic goals and proposed patient management algorithm take into account the need for early disease-specific therapy to delay or slow the progression of disease as well as non-specific adjunctive therapies that prevent or treat the effects of organ damage on quality of life and long-term prognosis. CONCLUSIONS: These consensus recommendations help advance Fabry disease management by considering the balance between anticipated clinical benefits and potential therapy-related challenges in order to facilitate individualized treatment, optimize patient care and improve quality of life.
Barts Heart Centre University College London London United Kingdom
Cardiovascular Department San Donato Hospital Arezzo Italy
Department of Cardiology Innere Klinik 2 Katharinen Hospital Unna Germany
Department of Nephrology Infermi Hospital Rimini Italy
Department of Neurology University of Erlangen Nuremberg Erlangen Germany
Department of Paediatrics University of Torino Torino Italy
Division of Medicine Turku University Hospital Turku Finland
Division of Nephrology University Clinic University of Würzburg Würzburg Germany
Leviev Heart Center Sheba Medical Center Tel Hashomer Tel Aviv University Israel
Mark Holland Metabolic Unit Salford Royal NHS Foundation Trust Salford United Kingdom
Neurological Unit St Bassiano Hospital Bassano del Grappa Italy
Service de Cardiologie Hôpitaux Universitaires de Genève Geneva Switzerland
Unidad de Diálisis IIS Fundación Jiménez Díaz UAM IRSIN and REDINREN Madrid Spain
University Heart Center University Hospital of Zurich and University of Zurich Zurich Switzerland
Citace poskytuje Crossref.org
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- $a Wanner, Christoph $u Division of Nephrology, University Clinic, University of Würzburg, Würzburg, Germany. Electronic address: Wanner_C@ukw.de.
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- $a BACKGROUND: Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry disease is an X-linked disorder, both genders may be affected, but generally to a lesser extent in females. The disease spectrum ranges from classic early-onset disease to non-classic later-onset phenotypes, with complications occurring in multiple organs or being confined to a single organ system depending on the stage of the disease. The impact of therapy depends upon patient- and disease-specific factors and timing of initiation. METHODS: A European panel of experts collaborated to develop a set of organ-specific therapeutic goals for Fabry disease, based on evidence identified in a recent systematic literature review and consensus opinion. RESULTS: A series of organ-specific treatment goals were developed. For each organ system, optimal treatment strategies accounted for inter-patient differences in disease severity, natural history, and treatment responses as well as the negative burden of therapy and the importance of multidisciplinary care. The consensus therapeutic goals and proposed patient management algorithm take into account the need for early disease-specific therapy to delay or slow the progression of disease as well as non-specific adjunctive therapies that prevent or treat the effects of organ damage on quality of life and long-term prognosis. CONCLUSIONS: These consensus recommendations help advance Fabry disease management by considering the balance between anticipated clinical benefits and potential therapy-related challenges in order to facilitate individualized treatment, optimize patient care and improve quality of life.
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