Published online May 26, 2023. doi: 10.12998/wjcc.v11.i15.3542
Peer-review started: November 10, 2022
First decision: December 26, 2022
Revised: January 29, 2023
Accepted: April 17, 2023
Article in press: April 17, 2023
Published online: May 26, 2023
Processing time: 196 Days and 2.3 Hours
The pathophysiology of Fabry disease (FD)-induced progressive vital organ damage is irreversible. Disease progression can be delayed using enzyme replacement therapy (ERT). In patients with classic FD, sporadic accumulation of globotriaosylceramide (GL-3) in the heart and kidney begins in utero; however, until childhood, GL-3 accumulation is mild and reversible and can be restored by ERT. The current consensus is that ERT initiation during early childhood is paramount. Nonetheless, complete recovery of organs in patients with advanced FD is challenging.
Two related male patients, an uncle (patient 1) and nephew (patient 2), presented with classic FD. Both patients were treated by us. Patient 1 was in his 50s, and ERT was initiated following end-organ damage; this was subsequently ineffective. He developed cerebral infarction and died of sudden cardiac arrest. Patient 2 was in his mid-30s, and ERT was initiated when the patient was diagnosed with FD, during which the damage to vital organs was not overtly apparent. Although he had left ventricular hypertrophy at the beginning of this treatment, the degree of hypertrophy progression was limited to a minimal range after > 18 years of ERT.
We obtained discouraging ERT outcomes for older patients but encouraging outcomes for younger adults with classic FD.
Core Tip: Fabry disease (FD) is an inherited metabolic disorder, caused by a genetic mutation or decreased α-galactosidase activity in lysosomes. Enzyme replacement therapy (ERT) is a promising treatment for FD. Few reports have compared the effect of ERT in older adult populations vs. that in populations in their 30s. Here we report the effect of ERT in an older adult and a patient in his mid-30s from the same FD family. We demonstrated that ERT is sufficiently effective for patients in their mid-30s if the major organs such as the brain, heart and kidney are not severely damaged.