Fabry disease is an X-linked lysosomal storage disease resulting from deficient activity of the enzyme alpha-galactosidase (alpha-Gal) A. It has been postulated that the accumulation of globotriaosylceramide in the endothelial cells of blood vessels may lead to thrombosis of the brain and other tissues. Recently, enzyme replacement therapy (ERT) for Fabry disease is available. A high incidence of thrombotic accidents in Fabry disease has been postulated. However, a systemic study on thrombosis in cases of Fabry disease has not been undertaken. To clarify the incidence of thrombosis in Fabry disease, we screened 65 patients with Fabry disease (49 hemizygotes and 16 heterozygotes) from 39 unrelated Japanese families. We found that ten patients with Fabry disease (7 hemizygous males and 3 heterozygous females) had experienced thrombotic accidents, under 45-years-old in 8 cases. These 10 patients showed the gene mutations of classical Fabry disease. Nine of these thrombotic patients developed brain infarctions, one man who had the complication of recurrent thrombophlebitis, and the remaining woman showed central retinal artery occlusion and thrombophlebitis. We demonstrated a high incidence of thrombosis in Fabry disease (15%). ERT should be performed in patients not only in hemizygous males but also in heterozygous females and started at their early ages.
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Sodium-glucose cotransporter 2 inhibitors reduce albuminuria in patients with Fabry disease: a real-world case series.
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Department of Nephrology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Background: Fabry disease is a rare X-linked multisystem disease, with progressive proteinuric kidney disease contributing significantly to morbidity and mortality of these patients. Evidence shows that sodium-glucose cotransporter 2 inhibitors (SGLT2Is) can reduce proteinuria and slow progression to end-stage kidney disease in both diabetic and non-diabetic kidney disease.
Aim: Evaluate the effects of SGLT2I on kidney function and albuminuria in patients with Fabry disease.
A real-world pharmacovigilance analysis for agalsidase beta: findings from the FDA adverse event reporting database.
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Department of Pharmacy, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Fabry disease (FD), an X-linked lysosomal disorder, is marked by a lack of alpha-galactosidase A (α-Gal A). Agalsidase beta, a recombinant form of α-Gal A, is fundamental to enzyme replacement therapy for FD but requires close monitoring for adverse events (AEs).
Research Design And Methods: This study retrospectively analyzed the Food and Drug Administration Adverse Event Reporting System (FAERS) database for agalsidase beta-related AEs.
Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A).
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Department of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, Germany.
Fabry disease (FD, OMIM #301500) is a rare metabolic disorder, X-linked glycosphingolipidosis that is characterized by pathogenic mutations in the GLA (Galactosidase Alpha) gene (OMIM *300644) that result in reduced α-galactosidase A (α-GAL) activity and accumulation of globotriaosylceramide (Gb3) in tissues and organs. Peripheral blood mononuclear cells (PBMCs) were used to generate human induced pluripotent stem cells (hiPSC). UKJi004-A was produced from a healthy donor, whereas UKJi003-A was produced from a patient who had FD with GLA-mutation (IVS6-10G>A).
View Article and Find Full Text PDFEpidemiology and early predictors of Fabry nephropathy: evaluation of long-term outcomes from a national Fabry centre.
J Nephrol
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The School of Medicine, Manchester Academic Health Sciences Centre, Manchester University, Manchester, UK.
Background: Fabry disease is a rare genetic lysosomal storage disorder, whereby the accumulation of sphingolipids consequently leads to kidney structural damage and dysfunction. We explored the epidemiology of chronic kidney disease (CKD) among patients with Fabry disease at a major UK referral centre in Greater Manchester serving over 7 million people, to inform early predictors of kidney disease and possible treatment planning.
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Department of Thoracic and Cardiovascular Surgery, Osaka Medical and Pharmaceutical University, Osaka, Japan.
Unlabelled: A 60-year-old woman with a recent history of presumed cardiogenic cerebral infarction was referred for surgical removal of a left ventricular mass. She was diagnosed with Fabry disease eight years before. Transthoracic echocardiography showed a mobile echogenic mass in the left ventricular apex.
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