Resumo

RAMIREZ-GRISALES, Javier D.  e  ORTEGA-LOPEZ, María V.. Cardiologist finds a case with Fabry disease. Rev. Colomb. Cardiol. [online]. 2021, vol.28, n.2, pp.171-174.  Epub 10-Jun-2021. ISSN 0120-5633.  https://doi.org/10.24875/rccar.m21000043.

In this report is call the attention of our colleagues the possibility of finding a case of Fabry’s disease within the multitude of patients in our practice. It is expose the clinical conditions of these patients which make them unique, due to a disease denominated as orphan. It is possible that many of these clinical conditions have gone unnoticed and by not having them present prevent/impide us from having a high degree of suspicion which would lead to a diagnosis.

Palavras-chave : Fabry disease; Orphan disease; Diagnostic suspicion.

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