P15—Cardiovascular Manifestations of Fabry Disease in Mexico

Abstract

clinic, we became aware that his family history included relatives who had kidney disease or stroke and, additionally, were found to have angiokeratoma during the physical examination. Taking all the findings in this patient into consideration, we suspected a diagnosis of Fabry disease. An enzyme ( -galactosidase) activity assay revealed a deficient activity of 0.85 nmol/h/mg protein (range, 11.5–32.09 nmol/h/mg protein). Consequently, the diagnosis of Fabry disease was confirmed. In accordance with the enzyme-replacement therapy (ERT) guidelines, we started ERT and currently he has been treated for 18 months without any adverse events. It seems that his clinical condition has improved. Conclusion: Detailed family history is very important for this disease because of the clinical variability.