Diagnosis, treatment, and follow-up of Fabry disease in pediatrics

Fabry disease (FD), also known as Anderson-Fabry disease, is a heterogeneous, multisystem lysosomal storage disorder with an X-linked inheritance pattern. Its estimated prevalence in the general population ranges from approximately 1 in 40,000 to 1 in 100,000 individuals. FD results from partial or complete deficiency of the lysosomal enzyme alpha-galactosidase A (α-Gal A), caused by pathogenic variants in the GLA gene. This enzymatic deficiency leads to progressive lysosomal accumulation of glycosphingolipids, resulting in multisystem involvement with a broad clinical spectrum. Clinical manifestations may appear as early as childhood.

To develop evidence-based recommendations for the diagnosis, treatment, and follow-up of pediatric patients with FD.

A literature search was conducted in Medline and Embase for studies published between January 2021 and May 2025. Additional information was obtained from development group websites, consensus documents, technology evaluations, Google Scholar, clinical experts, and reference lists. The quality of evidence was assessed according to the type of source. A modified Delphi consensus process was carried out with external experts, and an 80 % agreement threshold was established to define the final recommendations.

The evidence search identified 47 publications. Consensus was reached on 57 recommendations regarding diagnosis, treatment, and surveillance. These recommendations were validated by external clinical experts from Colombia, Argentina, Spain, Mexico, and the USA.

The recommendations presented in this document are based on the most up-to-date evidence available at the time of the search and the judgment of clinical experts. They are expected to support daily clinical practice for the diagnosis, treatment, and follow-up of pediatric patients with FD.