Pediatric Fabry Disease

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Abstract
Background. Fabry disease is an underdiagnosed, treatable, X-linked, multisystem disorder.Objectives. To test the hypothesis that quality of life and sweating are decreased among pediatric patients with Fabry disease, compared with control subjects, and to provide quantitative natural history data and novel clinical end points for therapeutic trials.Design. Prospective, cross-sectional, observational study.Setting. Referral to the National Institutes of Health.Participants. Twenty-five male children with Fabry disease (mean age: 12.3 ± 3.5 years) and 21 age-matched control subjects.Main Outcome Measures. Quality of life (measured with the Child Health Questionnaire) and sweating (assessed with the quantitative sudomotor axon reflex test).Results. Quality of life scores for pediatric patients 51 g/m2.7) were localized near the catalytic site of the enzyme.Conclusions. Despite the absence of major organ dysfunction, Fabry disease demonstrates significant morbidity already in childhood. We have identified important, potentially correctable or preventable, outcome measures for future therapeutic trials. Prevention of complications involving major organs should be the goal for long-term specific therapy.