[P1-169] Small Fiber Dysfunction in Very Young Children with Classical Fabry Disease.
[Background]
An earlier enzyme replacement therapy implicates a better outcome in the patients with Fabry disease. However, there is no consensus on when is the best time to start ERT for the young children, even for the classical Fabry patients. Some treatment guidelines recommend starting ERT after the occurrence of significant clinical manifestations of Fabry disease. In this study, we try to find the earliest manifestation of the very young children with classical Fabry disease who were identified by newborn screening.
[Methods and Results]
From 2008 to 2015, more than 792,247 newborns were screened for Fabry disease at Taipei Veterans General Hospital. 10 children (7 boys and 3 girls) with classical mutations were identified. Out of these 10 children, 6 boys (median age: 4.57 ± 1.39 years old) were enrolled to identify the early impairment of small fiber neuropathy by sympathetic skin response. Five children (83%) showed abnormal sympathetic skin response, even when they didn’t have any significant symptoms of Fabry disease. SSR amplitudes were significantly decreased in children with Fabry disease.
[Conclusions]
The sympathetic skin response could be a sensitive method to detect the early impairment of the small nerve fiber in the very young children with Fabry disease. The early detection of the small nerve fiber dysfunction might encourage an early enzyme replacement therapy to facilitate a better outcome of Fabry disease.
An earlier enzyme replacement therapy implicates a better outcome in the patients with Fabry disease. However, there is no consensus on when is the best time to start ERT for the young children, even for the classical Fabry patients. Some treatment guidelines recommend starting ERT after the occurrence of significant clinical manifestations of Fabry disease. In this study, we try to find the earliest manifestation of the very young children with classical Fabry disease who were identified by newborn screening.
[Methods and Results]
From 2008 to 2015, more than 792,247 newborns were screened for Fabry disease at Taipei Veterans General Hospital. 10 children (7 boys and 3 girls) with classical mutations were identified. Out of these 10 children, 6 boys (median age: 4.57 ± 1.39 years old) were enrolled to identify the early impairment of small fiber neuropathy by sympathetic skin response. Five children (83%) showed abnormal sympathetic skin response, even when they didn’t have any significant symptoms of Fabry disease. SSR amplitudes were significantly decreased in children with Fabry disease.
[Conclusions]
The sympathetic skin response could be a sensitive method to detect the early impairment of the small nerve fiber in the very young children with Fabry disease. The early detection of the small nerve fiber dysfunction might encourage an early enzyme replacement therapy to facilitate a better outcome of Fabry disease.