Increase in left ventricular mass index and acroparesthesia incidence in children with Fabry disease correlates with their GLA mutation

Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

Abstract Introduction Common symptoms for children with Anderson-Fabry Disease (FD) such as acroparaesthesia and gastrointestinal manifestations can only be objectively assessed in patients using a valid instrument. To date, no such instrument exists. Methods A preliminary 40-item measure of symptoms and experience with FD, the Fabry-specific Paediatric Health and Pain Questionnaire (FPHPQ) was developed, but lacked a formal assessment of its measurement properties. The FPHPQ was used in the Fabry Outcome Survey (FOS), a registry for all patients with a confirmed diagnosis of FD who are receiving agalsidase alfa, or are treatment naïve and who are managed by physicians participating in FOS.…

Measuring patient experiences in fabry disease: validation of the Fabry Outcome Survey (FOS) paediatric health and pain questionnaire

PND44 Validation of the Fabry Outcome Survey (FOS) Paediatric Health and Pain Questionnaire

Ophthalmological manifestations in Fabry disease children in the Fabry Outcome Survey