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

backgroundFabry disease (FD) is an X-linked lysosomal storage disorder with progressive multiorgan involvement. Cardiac disease is a major determinant of prognosis. CASE SUMMARY: 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. DISCUSSION: 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. TAKE-HOME MESSAGES: 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.