Capillaroscopy in Fabry disease: Study of a family

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 descr...

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Published in:Indian journal of human genetics 2006-01, Vol.12 (1), p.23-25
Main Author: Lopez-Rodriguez Monica, Barbado-Hernandez FranciscoJavier, Eslava AntonioTorrijos, Garcia-Consuegra Julia, Arias-Martinez Natividad, Gomez-Cerezo Jorge, Pagan-Munoz Barbara, Vazquez-Rodriguez JuanJose
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Language:English
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Blood vessels
Capillaroscopy, fabry disease, acroparesthesia, enzyme replacement therapy
Medical diagnosis
Medical disorders
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container_title Indian journal of human genetics
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creator Lopez-Rodriguez Monica, Barbado-Hernandez FranciscoJavier, Eslava AntonioTorrijos, Garcia-Consuegra Julia, Arias-Martinez Natividad, Gomez-Cerezo Jorge, Pagan-Munoz Barbara, Vazquez-Rodriguez JuanJose
description 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.
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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. 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subjects Blood vessels
Capillaroscopy, fabry disease, acroparesthesia, enzyme replacement therapy
Medical diagnosis
Medical disorders
title Capillaroscopy in Fabry disease: Study of a family
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