Severe Aortopathy Caused by Fabry Disease

The involvement of the aorta in Fabry disease (FD) is not uncommon, but the need for a surgical intervention and description of its potential results are rare. Pathology of the affected aortic wall is still unavailable. We report severe aortopathy caused by FD refractory to long-term (16-year agalsidase alpha) enzyme replacement therapy and progressing to a large aneurysm (56 mm) of the aortic root requiring surgical repair. We describe the pathology of the aortic wall, including globotriaosylceramide (Gb3) accumulation in the smooth muscle cells, large areas of fatty infiltration, and foci of lymphocytic inflammation as an immune-mediated reaction to Gb3 secretion.