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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Enzyme replacement therapy in two patients with classic Fabry disease from the same family tree: Two case reports
Yuki Harigane1, Issei Morimoto2, O Suzuki3
1Department of Urology, Fukushima Medical University, Fukushima 960-1295, Japan.
Background:
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.
Case Summary:
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.
Conclusion:
We obtained discouraging ERT outcomes for older patients but encouraging outcomes for younger adults with classic FD.
Insights
Enzyme replacement therapy (ERT) shows discouraging outcomes for older Fabry disease (FD) patients but encouraging results for younger adults. Early intervention is key for managing FD progression and organ damage.
Area of Science:
- Genetics and rare diseases
- Metabolic disorders
- Cardiovascular and renal medicine
Background:
- Fabry disease (FD) causes irreversible organ damage due to globotriaosylceramide (GL-3) accumulation.
- Early childhood enzyme replacement therapy (ERT) can reverse mild GL-3 buildup.
- Complete organ recovery in advanced FD remains challenging.
Observation:
- Two male patients with classic FD were treated with ERT.
- Patient 1, in his 50s, received ERT after end-organ damage, experiencing ineffective treatment and fatal outcomes.
- Patient 2, in his mid-30s, received ERT upon diagnosis, showing limited left ventricular hypertrophy progression over 18 years.
Findings:
- ERT outcomes varied significantly based on patient age and disease stage at initiation.
- Late-stage ERT in an older patient was ineffective, highlighting the limitations of treating advanced FD.
- Early ERT in a younger adult effectively limited disease progression, preserving organ function.
Implications:
- Initiating ERT in younger individuals with Fabry disease is crucial for better outcomes.
- The timing of ERT is critical in managing FD progression and preventing severe organ damage.
- Further research into optimal ERT strategies for different FD patient populations is warranted.
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