Myocardial fibrosis pathology in Anderson–Fabry disease: Evaluation of autopsy cases in the long- and short-term enzyme replacement therapy, and non-therapy case

Aims

Enzyme replacement therapy (ERT) has been shown to be effective in the treatment of Anderson–Fabry disease (AFD). However, there have thus far been few reports on the histological findings of the heart in cases treated with ERT for more than 10 years. We had an opportunity to examine the heart of an AFD patient that had received ERT for more than 10 years, as well as those of two other patients, by autopsy, and compare the pathological findings.

Methods and results

Three AFD patients who had received ERT for different durations underwent autopsy. Marked left ventricular hypertrophy was observed in all three cases. The myocardial fibrosis of the patient that had been administered ERT for more than 10 years was much slighter when compared with the remaining two cases. We further observed significant differences in globotriaosylceramide (Gb3) deposition and mitochondria in the cytoplasm of myocytes by electron microscopy.

Conclusion

ERT may not reduce left ventricular hypertrophy in AFD, but does prevent myocardial fibrosis when initiated before progression of fibrotic change.