Clin Genet. 2019 Aug;96(2):107-117. doi: 10.1111/cge.13546. Epub 2019 Jun 6.

PMID: 30941742

Dominique P Germain, Alain Fouilhoux, Stéphane Decramer, Marine Tardieu, Pascal Pillet, Marc Fila, Serge Rivera, Georges Deschênes, Didier Lacombe

Highlights: This article emphasizes the importance of early diagnosis and treatment of Fabry disease for preventing organ damage, morbidity, and premature mortality in adulthood.

Abstract 

Objective: A bi-monthly infusion of enzyme replacement therapy (ERT) to replace deficient α-galactosidase A (AGALA) can be used to treat Fabry disease (FD), a rare X-linked disorder. ERT improves clinical signs and biochemical markers while reducing symptoms and improving quality of life (QoL). Initiating ERT in childhood may be able to slow or stop the progression of organ damage. The prevention of organ damage in later life is anticipated to be possible if FD is treated early in life, motivating a French expert working group to collaborate and develop recommendations for treating and monitoring children with FD.

Conclusion: Organ involvement should be examined by age 5 for asymptomatic boys (age 12-15 for asymptomatic girls) and promptly for children who have been diagnosed based on symptoms. The renal, cardiac, neurological, and gastrointestinal systems, as well as bone, skin, eyes, hearing, and quality of life, should all be evaluated. The plasma biomarker globotriaosylsphingosine is also beneficial. For symptomatic boys and girls with neuropathic pain, pathological albuminuria (3 mg/mmol creatinine), significant GI involvement and abdominal pain, or cardiac involvement, ERT should be considered. From the age of seven, asymptomatic boys should be considered for ERT. Organ involvement should be treated on an individual basis. Early diagnosis and treatment of FD is a potential technique for preventing organ damage, morbidity, and premature mortality in adulthood.

Keywords: Fabry disease, children, diagnosis, enzyme replacement therapy, management, paediatric, treatment.