Enzyme Replacement and Immunosuppression in Heart Transplant Recipients with Fabry Cardiomyopathy: A 7-Year Case Study.

Abstract

BACKGROUND Fabry disease (FD) is a rare storage disorder caused by the absence or deficiency of alpha-galactosidase A, which leads to accumulation of glycosphingolipids in tissues, chronic inflammation, fibrosis, and multiple-organ dysfunction. There are only a few cases of orthotopic heart transplantation (OHT) in patients with FD in the literature. This report shows the manifestation of FD, its course in OHT recipient and outcome of 4-year enzyme replacement therapy (ERT) combined with post-transplant immunosuppression. CASE REPORT A 54-year-old female patient had cardiomegaly revealed by a chest X-ray. Subsequent diagnostics included transthoracic echocardiography (TTE), which showed left ventricular hypertrophy. Despite typical therapeutic management, she had progression of heart failure (HF) symptoms. After 6 years, cardiac magnetic resonance imaging (MRI) showed myocardial fibrosis. This finding and TTE analysis led to suspicion of storage disease with cardiac involvement. Further biochemical and genetic diagnostics showed low activity of alpha-galactosidase A and detected mutations of the GLA gene. Five years after the first cardiac symptoms, Fabry cardiomyopathy was diagnosed. Due to HF progression, she underwent OHT with subsequent standard immunosuppressive treatment. As soon as ERT was available in Poland, it was included to the treatment. Currently, there is no evidence of cardiac involvement of FD or graft rejection. CONCLUSIONS Severe HF not responding to medical therapy in patients with FD can be successfully treated with cardiac transplantation. The risk of disease recurrence in the graft appears to be low. The anti-inflammatory action of post-transplant immunosuppression may play a role in that phenomenon, but further research is needed to confirm this hypothesis.