Natural history and effects of enzyme replacement therapy in children and adolescents with Fabry disease

Excerpt

Many of the signs and symptoms of Fabry disease occur frequently in early childhood. These include acute and chronic neuropathic pain, acroparaesthesiae, hypohidrosis, angiokeratoma and gastrointestinal symptoms. Such manifestations occur in both boys and girls and may impair quality of life (QoL) and affect daily activities at home and school. Cornea verticillata is also commonly seen in affected children. In addition, although stroke, end-stage renal failure and heart failure are not found in children with Fabry disease, early signs of cerebrovascular, renal and cardiac involvement are encountered. Despite early manifestations of Fabry disease occurring in childhood, correct diagnosis is frequently delayed. Data from FOS – the Fabry Outcome Survey –and from clinical trials on the effects of enzyme replacement therapy (ERT) in children with Fabry disease have demonstrated that ERT with agalsidase alfa is well tolerated and has beneficial clinical effects on pain, QoL and gastrointestinal symptoms, at least in the short term. Early diagnosis is therefore important, because early initiation of ERT could potentially prevent or at least delay progression to end-stage organ failure.