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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 12, No. 1, 2006, pp. 23-25
Bioline Code: hg06005
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 12, No. 1, 2006, pp. 23-25

 en Capillaroscopy in Fabry disease: Study of a family
Lopez-Rodriguez Monica, Barbado-Hernandez FranciscoJavier, Eslava AntonioTorrijos, Garcia-Consuegra Julia, Arias-Martinez Natividad, Gomez-Cerezo Jorge, Pagan-Munoz Barbara, Vazquez-Rodriguez JuanJose


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.

Capillaroscopy, fabry disease, acroparesthesia, enzyme replacement therapy

© Copyright 2006 Indian Journal of Human Genetics.
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