Background:

Fabry disease (FD) is a rare X-linked disease characterized by the accumulation of glyco-sphingolipids in lysosomes due to the deficiency in the production of alpha-galactosidase A (α-Gal A) enzyme. Despite its low frequency, this disease has a serious impact on the life expectancy and quality.

Objective:

To make evidence-based recommendations for the diagnosis and treatment of FD in pediatric patients (<18 years of age).

Materials and Methods:

A study of databases and gray literature was conducted in 2010, including clinical practice guidelines, systematic reviews, and primary research. The type of evidence was used to determine the quality of evidence. The recommendations were submitted to an expert consensus using the modified Delphi process. The agreement was set at 80%.

Conclusions:

The recommendations emerging from this expert consensus will enable the standardization of care provision for pediatric patients with FD in Colombia and Latin America and clinical decision-making for disease management. Notably, making an early diagnosis ensures a reduction in the impact of this disease on the quality of life of patients and their families.

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