title: Demographic characterization of Brazilian patients  enrolled in the Fabry Registry.
abstract: Fabry disease (FD) is an X-linked inborn error of  metabolism caused by alpha-galactosidase A deficiency. The Fabry Registry is an  ongoing observational database that compiles clinical data on patients with FD.  We analyzed the Fabry Registry data of patients enrolled in Brazil to  characterize the demographic and baseline clinical characteristics of this  patient population. As of October 2010, 126 Brazilian patients were enrolled in  the Registry (61 males, 65 females). The median age at onset of symptoms in  males was 9.8 years, compared to 11.4 years in females. Males were diagnosed at  a median age of 31.9 years and females at 27.1 years. The median time between  the onset of first symptoms and diagnosis was 20.3 years in males and 14.3  years in females. Neurologic pain was the presenting symptom most frequently  reported by both genders. Renal events were the most common clinical events  reported in males, while cardiac events were the most common events in females.  The results of these analyses indicate that Brazilian patients were frequently  not diagnosed with FD until many years after the onset of symptoms. Many  Brazilian Fabry Registry patients report experiencing neurological pain, and  many Brazilian women with FD exhibit substantial signs and symptoms. The  prevalence of neurological pain as a presenting symptom among Brazilian  Registry patients is consistent with previous reports from the overall Registry  population. FD is treatable, and earlier diagnosis will allow for prompt  initiation of appropriate treatment that may avert irreversible damage that  could occur during the time from symptom onset to diagnosis.
authors: Centro de Referência em Erros Inatos do Metabolismo, Departamento de Pediatria, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
authors: A M
authors: AM
authors: Martins
authors: S O
authors: SO
authors: Kyosen
authors: J
authors: J
authors: Garrote
authors: F M V
authors: FM
authors: Marques
authors: J G
authors: JG
authors: Guilhem
authors: E
authors: E
authors: Macedo
authors: J
authors: J
authors: Sobral Neto
authors: S
authors: S
authors: Ura
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D000795:Fabry Disease / Q000453:epidemiology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012042:Registries; D055815:Young Adult