Assessing small fiber neuropathy and subtle cardiac involvement in Fabry disease

Abstract Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by reduced or absent activity of the enzyme α-galactosidase A. Due to systemic accumulation of glycolipids, FD phenotype is diverse, and diagnosis may be challenging. Clinical manifestations include small fiber neuropathy, renal dysfunction, cardiac involvement, cerebrovascular disease, among others. In the present study, we describe biopsy proven small fiber neuropathy and subclinical cardiac involvement in two cousins diagnosed with FD secondary to a recently described pathogenic variant, highlighting the importance of diagnostic tools to document organ damage and allow early treatment.

Redes de tratamento e as associações de pacientes com doenças raras / Treatment networks and associations of patients with rare diseases

Resumo As associações de pacientes são um exemplo de grupos biossociais, já que sua constituição é motivada por questões biológicas comuns, tais como as doenças raras, e estão, por vezes, inscritas no movimento social em saúde. Apesar da Política Nacional de Atenção Integral às Pessoas com Doenças Raras ter sido promulgada em 2014, os pacientes ainda têm dificuldade em garantir acesso a tratamento pelo Sistema Único de Saúde. Investigamos como as associações de pacientes com doenças raras tecem, através das redes sociais virtuais, o acesso a tratamento. Esta pesquisa é parte de um estudo sobre o uso das mídias sociais pelas associações de pacientes com doenças raras, e emprega como método a netnografia. As fontes da pesquisa foram páginas de associações de pacientes com doenças raras no Brasil presentes no Facebook. Observamos que a atuação das associações de pacientes é plural, indo desde a orientação de pacientes e familiares sobre questões relacionadas a tratamento e qualidade de vida, até a participação ativa na elaboração e implementação de políticas públicas. Os discursos sugerem que o foco destas associações é, na maior parte dos casos, o acesso a medicamentos, em detrimento da implantação efetiva da Política Nacional de Atenção Integral às Pessoas com Doenças Raras.

Abstract Patients' associations are an example of biosocial groups, since their formation is motivated by common biological characteristics, such as rare diseases, and they are sometimes included in social movements in health. Even though the National Policy on Comprehensive Care for Persons with Rare Diseases was enacted in 2014, patients still struggle to ensure access to and treatment by the Unified Health System. The way in which associations of patients with rare diseases gain access to treatment via social networks, is investigated. This research is part of a study about the use of social media by associations of patients with rare diseases, which employs netnography - ethnography applied to the web - as the data-gathering method. Data sources were pages of the associations on Facebook in Brazil. It was seen that the activities of the associations are multi-faceted, ranging from patient and family guidance about treatment and quality of life, to active participation in the elaboration and implementation of public policies. The discourses suggest that the focus of patients' associations is, in the majority of cases, the access to drugs rather than the effective enactment of the national policy geared towards rare diseases.

Contradicoes das politicas publicas voltadas para doencas raras: o exemplo do Programa de Tratamento da Osteogenese Imperfeita no SUS / Contradictions of public health policies geared to rare disorders: the example of the Osteogenesis Imperfecta Treatment Program in the Brazilian Unified Health System (SUS)

O artigo visa discutir o processo de consolidação de uma política pública, no Brasil, voltada a uma doença rara - a osteogênese imperfeita, cujo tratamento passou a responsabilidade do SUS em 2001 através da Portaria GM/MS2305/2001. O processo de implementação desta terapia vem sendo acompanhado de contradições, sobretudo no que diz respeito às decisões terapêuticas e ao fortalecimento da rede especializada na abordagem desta condição, atitudes claramente percebidas tanto no processo de elaboração quanto no texto da nova Portaria 714/2010.

The scope of this paper is to examine the process of consolidation of a public health policy in Brazil geared to a rare disorder, namely osteogenesis imperfecta, the treatment for which has fallen under the responsibility of the Brazilian Unified Health System (SUS) after the publication of Ministerial Ruling GM/MS2305/2001. The implementation of this law has been accompanied by many contradictions, especially with respect to therapeutic decisions and the strengthening of the specialized network for addressing this condition. These attitudes are clearly shown both by the drafting process and the final text of the new law (Ministerial Ruling 714/2010).