European expert consensus statement on therapeutic goals in Fabry disease
Wanner C., Arad M., Baron R., Burlina A., Elliott P. M., Feldt-Rasmussen U., Fomin V. V., Germain D. P., Hughes D. A., Jovanovic A., Kantola I., Linhart A., Mignani R., Monserrat L., Namdar M., Nowak A., Oliveira J. -., Ortiz A., Pieroni M., Spada M., Tylki-Szymańska A., Tøndel C., Viana-Baptista M., Weidemann F., Hilz M. J.
Molecular Genetics and Metabolism
Vol.124, Issue3, P. 189-203
Опубликовано: 2018
Тип ресурса: Обзор
DOI:10.1016/j.ymgme.2018.06.004
Аннотация:
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
Ключевые слова:
Consensus; Disease management; Enzyme replacement therapy; Fabry disease; Therapeutic goal
biological marker; globotriaosylceramide; algorithm; consensus; disease burden; disease severity; European; Fabry disease; history; human; patient care; personalized medicine; priority journal; prognosis; quality of life; Review; treatment response; enzyme replacement; Europe; expert witness; Fabry disease; standards; Consensus; Enzyme Replacement Therapy; Europe; Expert Testimony; Fabry Disease; Humans
Язык текста: Английский
ISSN: 1096-7206
Wanner C.
Arad M.
Baron R.
Burlina A.
Elliott P. M.
Feldt-Rasmussen U.
Fomin V. V. Viktor Viktorovich 1978-
Germain D. P.
Hughes D. A.
Jovanovic A.
Kantola I.
Linhart A.
Mignani R.
Monserrat L.
Namdar M.
Nowak A.
Oliveira J. -. J.-P.
Ortiz A.
Pieroni M.
Spada M.
Tylki-Szymańska A.
Tøndel C.
Viana-Baptista M.
Weidemann F.
Hilz M. J.
Wаннер C.
Арад М.
Барон Р.
Бурлина А.
Еллиотт П. М.
Фелдт-Расмуссен У.
Фомин В. В. Виктор Викторович 1978-
Гермаин Д. П.
Хугхес Д. А.
Йовановиc А.
Кантола И.
Линхарт А.
Мигнани Р.
Монсеррат Л.
Намдар М.
Ноwак А.
Оливеира Й. -. Й.-П.
Ортиз А.
Пиерони М.
Спада М.
Тyлки-Сзyмаńска А.
Тøндел C.
Виана-Баптиста М.
Wеидеманн Ф.
Хилз М. Й.
European expert consensus statement on therapeutic goals in Fabry disease
Текст визуальный непосредственный
Molecular Genetics and Metabolism
Academic Press
Vol.124, Issue3 P. 189-203
2018
Обзор
Consensus Disease management Enzyme replacement therapy Fabry disease Therapeutic goal
biological marker globotriaosylceramide algorithm consensus disease burden disease severity European Fabry disease history human patient care personalized medicine priority journal prognosis quality of life Review treatment response enzyme replacement Europe expert witness Fabry disease standards Consensus Enzyme Replacement Therapy Europe Expert Testimony Fabry Disease Humans
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