Capillaroscopy in Fabry disease: Study of a family

• Published in: Indian journal of human genetics Vol. 12; no. 1; pp. 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
• Format: Journal Article
• Language: English
• Published: India Medknow Publications on behalf of Indian Society of Human Genetics 01.01.2006; Medknow Publications & Media Pvt. Ltd
• Subjects: acroparesthesia; Blood vessels; Capillaroscopy; enzyme replacement therapy; fabry disease; Medical diagnosis; Medical disorders
• ISSN: 0971-6866; 1998-362X
• DOI: 10.4103/0971-6866.25298

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.