RESUMO
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.
RESUMO
Se comunica un caso que cumplía los criterios clásicos de PS, de tal manera que con radiología simple mostraba una sóla lesión ósea, no se advirtió infiltración mielomatosa en la médula ósea, carecía de signos de enfermedad diseminada, y la biopsia de la masa costovertebral izquierda (única lesión ósea demostrada en la radiología convencional) proporcionó la confirmación histológica de plasmocitoma. No obstante, la tuilización de otras técnicas complementarias, como TAC, gammagrafía ósea con SPECT y el análisis citométrico de la médula ósea (CD38+, EMA+, CD56+ y CD138+), permitieron demostrar que se trataba de un mieloma generalizado. De este modo el paciente fue tratado con quimioterapia y no con rardioterapia local que es el proceder recomendado en el PS