| Original Communication - Capillaroscopy in Fabry disease: Study of a family | |
Abstract/OtherAbstract
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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
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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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Contributors
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Publication Detail
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Publisher : Medknow Publications on behalf of Indian Society of Human Genetics Type : journal Format : 80102 bytes, application/pdf |
Date Detail
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2006-08-24, 2006-08-24, 2006-12-31 |
Subject
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Capillaroscopy, fabry disease, acroparesthesia, enzyme replacement therapy, Capillaroscopy, fabry disease, acroparesthesia, enzyme replacement therapy |
Coverage
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Relation
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http://www.ijhg.com/; http://www.bioline.org.br/hg |
Source
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Copyright Information
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Copyright 2006 Indian Journal of Human Genetics. |
Other Details
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Languages : en, en_US |
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