A Mehta1, L Ginsberg. 1. Department of Haematology, Royal Free Hospital, London, UK. Atul.Mehta@royalfree.nhs.uk
Abstract
UNLABELLED: Fabry disease is a rare, X-linked lysosomal storage disease caused by an inborn deficiency of alpha-galactosidase A, which results in progressive accumulation of globotriaosylceramide in a range of cells and tissues. Neurological symptoms of Fabry disease, including peripheral neuropathy and cerebrovascular events, are among the most significant clinical aspects. In this paper we present the natural history and mechanisms involved in the cerebrovascular complications of Fabry disease using data reported in FOS-- the Fabry Outcome Survey--and other registries and clinical studies. We discuss ways in which these manifestations can be modified by intervention, including both general measures for cerebrovascular disease and enzyme replacement therapy. CONCLUSION: Data from FOS have provided important insights into the natural history of the cerebrovascular complications of Fabry disease. Furthermore, the database has demonstrated that significant renal or cardiac disease often co-exists with cerebrovascular disease, and may predispose patients with Fabry disease to neurological disability and stroke.
UNLABELLED: Fabry disease is a rare, X-linked lysosomal storage disease caused by an inborn deficiency of alpha-galactosidase A, which results in progressive accumulation of globotriaosylceramide in a range of cells and tissues. Neurological symptoms of Fabry disease, including peripheral neuropathy and cerebrovascular events, are among the most significant clinical aspects. In this paper we present the natural history and mechanisms involved in the cerebrovascular complications of Fabry disease using data reported in FOS-- the Fabry Outcome Survey--and other registries and clinical studies. We discuss ways in which these manifestations can be modified by intervention, including both general measures for cerebrovascular disease and enzyme replacement therapy. CONCLUSION: Data from FOS have provided important insights into the natural history of the cerebrovascular complications of Fabry disease. Furthermore, the database has demonstrated that significant renal or cardiac disease often co-exists with cerebrovascular disease, and may predispose patients with Fabry disease to neurological disability and stroke.
Authors: Michael Beck; Uma Ramaswami; Elizabeth Hernberg-Ståhl; Derralynn A Hughes; Christoph Kampmann; Atul B Mehta; Kathleen Nicholls; Dau-Ming Niu; Guillem Pintos-Morell; Ricardo Reisin; Michael L West; Jörn Schenk; Christina Anagnostopoulou; Jaco Botha; Roberto Giugliani Journal: Orphanet J Rare Dis Date: 2022-06-20 Impact factor: 4.303
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