Long-Term Cardiac Stability Despite Late Enzyme Replacement Therapy in Fabry Disease With Severe Renal Involvement

Fabry disease (FD) is an X-linked lysosomal storage disorder with progressive multiorgan involvement. Cardiac disease is a major determinant of prognosis.

A male patient developed angiokeratomas at 5 years of age, confirmed as FD by skin biopsy at 9 years of age. Due to lack of access, enzyme replacement therapy was initiated at 22 years of age, when renal dysfunction was already present. Despite progression to end-stage renal disease requiring kidney transplantation, serial cardiac magnetic resonance over 15 years consistently showed preserved left ventricular dimensions, function, and absence of fibrosis.

This case illustrates the renal-cardiac temporal sequence in FD and demonstrates that enzyme replacement therapy, even when started after irreversible renal injury but before cardiac involvement, can maintain long-term myocardial stability.

Late initiation may still prevent cardiac involvement if started before myocardial damage. Delayed therapy cannot halt advanced renal deterioration. Timely diagnosis and organ screening are essential in FD.