Adequate hemodialysis does not compromise the cardioprotective effect of agalsidase alfa on patients with Fabry disease: a case report.

backgroundFabry disease is an inherited lysosomal storage disease that can be reversed, or the progression slowed, by enzyme replacement therapy in the early stage. However, whether patients receiving renal replacement therapy benefit from enzyme replacement therapy remains controversial, especially in regard to patients on hemodialysis, who additionally suffer from uremia and abnormal hemodynamics. CASE PRESENTATION: Two male Han Chinese patients diagnosed with uremia prior to Fabry disease underwent renal transplantation and hemodialysis, respectively. At the ages of 27 and 32 years, they began receiving agalsidase-α, an enzyme replacement therapy drug, in February 2022, lasting for 1.5 years. Cardiac structural and functional parameters were obtained using the 6-minute walk test, along with serum biomarkers and electrocardiogram and ultrasound examinations. Changes in the cardiac parameters and the plasma globotriaosylsphingosine concentration before and after enzyme replacement therapy were evaluated. Both patients received enzyme replacement therapy for 18 months, which was uneventful. One patient maintained normal renal function, while the other received adequate dialysis. The level of globotriaosylsphingosine was reduced by approximately two-thirds after the first 3-month enzyme replacement therapy and remained stable during follow-up. No significant changes were detected in cardiac structure or function parameters, with the exception of the PR interval and left atrial reservoir strain. The PR interval of the renal transplant patient was prolonged from 108 to 128 milliseconds. Left atrial reservoir strain improved significantly in both patients, from 29.4% to 53.1% and from 46.3% to 59.3%, respectively.

conclusionPatients with Fabry disease who are on renal replacement therapy may benefit from enzyme replacement therapy. Moreover, adequate hemodialysis does not compromise the cardioprotective effect of agalsidase-α.