Capillaroscopy in Fabry disease: Study of a family.
Indian J Hum Genet
;
2006 Jan; 12(1): 23-25
Artigo
em Inglês
| IMSEAR
| ID: sea-143294
ABSTRACT
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 andMethods:
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2006
Tipo de documento:
Artigo
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