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Enzyme Replacement Therapy (ERT) on Heart Function Changes the Outcome in Patients with Infantile-Onset Pompe
Marco Lecis1, Katia Rossi2, Maria Elena Guerzoni3
1Post-Graduate School of Pediatrics, Department of Medical and Surgical Sciences for Mother Children and Adults, University of Modena and Reggio Emilia, Via Del Pozzo 71, Modena 41124, Italy.
Insights
Early diagnosis and enzyme replacement therapy (ERT) for Pompe disease (GAA deficiency) significantly improve outcomes. Delayed treatment in infantile-onset Pompe disease can be fatal, highlighting the critical need for prompt intervention.
Area of Science:
- Genetics and rare diseases
- Metabolic disorders
- Pediatric cardiology
Background:
- Pompe disease, a GAA deficiency, causes glycogen buildup, leading to tissue damage.
- Infantile Pompe disease presents with cardiomyopathy and hypotonia, often fatal within two years without treatment.
- Diagnosis involves GAA activity tests and genetic sequencing.
Observation:
- Two siblings with Pompe disease exhibited divergent diagnostic timelines and treatment responses.
- One sibling, diagnosed late at 6 months due to poor weight gain and sleepiness, developed severe cardiomyopathy and died before ERT.
- The other sibling received early diagnosis and prompt ERT, showing regression of cardiac hypertrophy.
Findings:
- Enzyme replacement therapy (ERT) has improved survival and clinical outcomes in infantile-onset Pompe disease.
- Early recognition and rapid initiation of ERT are crucial for preventing disease progression.
- ERT shows promising effects on cardiac function in Pompe disease patients.
Implications:
- Prompt ERT initiation is vital for mitigating the severity of Pompe disease.
- This case underscores the importance of timely diagnosis in improving survival rates for infantile-onset Pompe disease.
- Further research into ERT's long-term cardiac impact is warranted.
Background:
Lysosomal acid alpha-glucosidase (GAA) deficiency, also known as Pompe disease, is an autosomal recessive disorder that leads to the accumulation of glycogen in lysosomes and cytoplasm, resulting in tissue destruction. Infantile-onset GAA deficiency is characterized by cardiomyopathy and severe generalized hypotonia. Without treatment, most patients die within the first two years of life. The demonstration of reduced GAA activity, followed by sequencing of the GAA gene, confirms the disease. GAA deficiency is currently treated with enzyme replacement therapy (ERT) with improved clinical outcomes and survival. Case Presentation. We describe the case of DGAA in two siblings, in which the diagnostic time point, treatment, and outcomes were completely different. The girl was diagnosed with DGAA at the age of 6 months during investigations for poor weight gain and excessive sleepiness. The finding of severe cardiomyopathy through EKG and echocardiography led to the suspicion of storage disease, and the GAA deficiency was later confirmed by genetic analysis. The girl died of complications due to the clinical picture before starting ERT. Conversely, her younger brother had the opportunity to receive an early diagnosis and the rapid onset of ERT. He is showing a regression of cardiac hypertrophy.
Conclusion:
The advent of ERT improved clinical outcomes and survival in infantile-onset PD. Its impact on cardiac function is still under study, but different reports in the literature have shown encouraging data. Early recognition of DGAA and prompt initiation of ERT is therefore crucial to prevent the progression of the disease and improve the outcomes.
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