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 Vol. 12; no. 1; pp. 23 - 25 |
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Main Author | |
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 | |
Online Access | Get full text |
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Summary: | 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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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0971-6866 1998-362X |
DOI: | 10.4103/0971-6866.25298 |