Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients
Dominique P Germain1, Alain Fouilhoux2, Stéphane Decramer3
1Division of Medical Genetics, University of Versailles, Montigny, France.
Insights
Early enzyme replacement therapy (ERT) for Fabry disease (FD) in children can prevent organ damage. Recommendations guide the treatment and monitoring of pediatric FD patients for improved long-term outcomes.
Area of Science:
- Genetics and rare diseases
- Pediatric nephrology
- Cardiology
Background:
- Fabry disease (FD) is a rare X-linked disorder caused by deficient α-galactosidase A (AGAL-A).
- Enzyme replacement therapy (ERT) is a standard treatment for FD, improving quality of life and clinical markers.
- Early intervention in childhood is crucial to prevent progressive organ damage.
Purpose of the Study:
- To establish expert recommendations for the treatment and monitoring of children with Fabry disease.
- To outline age-specific screening protocols for organ involvement.
- To guide the initiation of ERT in pediatric FD patients.
Main Methods:
- Development of French expert working group guidelines.
- Assessment of organ involvement (renal, cardiac, nervous, GI, bone, skin, eyes, hearing) and quality of life.
- Consideration of plasma biomarker globotriaosylsphingosine.
Main Results:
- Organ involvement assessment should occur by age 5 for asymptomatic boys and 12-15 for girls, or immediately if symptomatic.
- ERT is recommended for symptomatic children with specific criteria (neuropathic pain, albuminuria, GI/cardiac issues).
- ERT consideration for asymptomatic boys begins at age 7.
Conclusions:
- Early diagnosis and proactive management of FD in children are vital.
- Timely ERT initiation and ongoing monitoring can mitigate organ damage, reduce morbidity, and prevent premature mortality.
- These recommendations aim to optimize long-term health outcomes for pediatric FD patients.
Abstract:
Fabry disease (FD), a rare X-linked disease, can be treated with bi-monthly infusion of enzyme replacement therapy (ERT) to replace deficient α-galactosidase A (AGAL-A). ERT reduces symptoms, improves quality of life (QoL), and improves clinical signs and biochemical markers. ERT initiation in childhood could slow or stop progressive organ damage. Preventative treatment of FD from childhood is thought to avoid organ damage in later life, prompting a French expert working group to collaborate and produce recommendations for treating and monitoring children with FD. Organ involvement should be assessed by age 5 for asymptomatic boys (age 12-15 for asymptomatic girls), and immediately for children diagnosed via symptoms. The renal, cardiac, nervous and gastrointestinal systems should be assessed, as well as bone, skin, eyes, hearing, and QoL. The plasma biomarker globotriaosylsphingosine is also useful. ERT should be considered for symptomatic boys and girls with neuropathic pain, pathological albuminuria (≥3 mg/mmol creatinine), severe GI involvement and abdominal pain or cardiac involvement. ERT should be considered for asymptomatic boys from the age of 7. Organ involvement should be treated as needed. Early diagnosis and management of FD represents a promising strategy to reduce organ damage, morbidity and premature mortality in adulthood.
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