Document Detail
Original Communication - Capillaroscopy in Fabry disease: Study of a family
Abstract/OtherAbstract :
Background: Nail bed capillaroscopy represents a simple and innocuous diagnosis method, used in vasculitis or collagen diseases. In Fabry disease (FD), there is a vasculopathy due to the storage of globotriaosylceramide. This is the first series that studies capillaroscopy in FD. Objective: To describe and evaluate the capillary findings in Fabry patients. Materials and Methods: Eight Fabry patients were selected; five were under enzyme replacement therapy (ERT) with agalsidase-A. Results: In three patients (under ERT), the capillaroscopy showed no abnormalities; two patients had absence of some capillaries (one with ERT); in three (one with ERT) the capillaroscopy revealed ramification of capillaries. Patients with normal capillaroscopy had no symptom of acroparesthesia for more than a year. Conclusions: Capillaroscopy is a good method to evaluate small vessels in FD and seems to have a correlation with ERT benefits, clinical manifestations and capillary findings. We purpose to use the capillaroscopy in the study of Fabry patients.
Authors :
López-Rodríguez, Mónica, Barbado-Hernández, Francisco Javier, Eslava, Antonio Torrijos, García-Consuegra, Julia, Arias-Martínez, Natividad, Gómez-Cerezo, Jorge, Pagán-Muñoz, Bárbara, Vázquez-Rodríguez, Juan José
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Publication Detail :
Publisher :  Medknow Publications on behalf of Indian Society of Human Genetics     Type :  journal     Format :  80102 bytes, application/pdf    
Date Detail :
2006-08-24, 2006-08-24, 2006-12-31
Subject :
Capillaroscopy, fabry disease, acroparesthesia, enzyme replacement therapy, Capillaroscopy, fabry disease, acroparesthesia, enzyme replacement therapy
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Copyright Information :
Copyright 2006 Indian Journal of Human Genetics.
Other Details :
Languages :  en, en_US    
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