Condutas clínicas e barreiras no tratamento da polineuropatia amiloidótica familiar associada à transtirretina (PAF-TTR) no Brasil / Clinical practice and barriers in familial transthyretinrelated amyloidotic polyneuropathy (FAP) care in Brazil

Objetivo: Identificar as condutas terapêuticas e a variabilidade na prática clínica, assim como necessidades não atendidas e barreiras para a adequada assistência a pacientes com polineuropatia amiloidótica familiar relacionada à transtirretina (PAF-TTR), no Brasil. Métodos: Estudo transversal, por meio de questionário semiestruturado on-line enviado por e-mail. Foram incluídos médicos com experiência no manejo clínico-assistencial de pacientes com PAF-TTR no Brasil. O questionário foi composto por 30 questões envolvendo características gerais da população brasileira com PAF-TTR, características das escolhas terapêuticas e da falha, definições de progressão de doença e estadiamento, e métodos para mensuração do impacto na qualidade de vida. Resultados: Seis profissionais responderam ao inquérito. Quanto ao diagnóstico e à classificação da doença, houve consenso quanto ao uso de quadro clínico associado a testagem genética para o diagnóstico, e foram considerados adequados os critérios de Coutinho e do Ministério da Saúde, apesar de serem pouco úteis na avaliação da progressão da doença. Entre os especialistas, 83,3% entendem que a terapia atualmente disponível no Sistema Único de Saúde (SUS) atende às necessidades dos pacientes no estágio I da doença, entretanto todos os especialistas apontam necessidades assistenciais não atendidas, uma vez que esse medicamento não possui benefício definido para os estágios II e III da doença. A progressão da doença é definida como qualquer novo sintoma ou piora daqueles preexistentes, não sendo necessária modificação no estágio da doença para caracterizar tal evento. Conclusões: A condução deste estudo permitiu a identificação de aspectos importantes para auxiliar no entendimento da prática clínico-assistencial no país e das necessidades em saúde desses pacientes

Objective: To identify therapeutic approaches and variability in clinical practice, as well as unmet needs and barriers to adequate care for patients with familial transthyretin-related amyloidotic polyneuropathy (FAP) in Brazil. Methods: Cross-sectional study using an online semi-structured questionnaire sent by email. Physicians with experience in the clinical-care management of patients with FAP in Brazil were included. The questionnaire consisted of 30 questions involving general characteristics of the Brazilian population with FAP; characteristics of therapeutic choices and failure; definitions of disease progression and staging; and methods for measuring the impact on quality of life. Results: Six professionals responded to the survey. As for the diagnosis and classification of the disease, there was a consensus regarding the use of a clinical picture associated with genetic testing for the diagnosis and, as appropriate, the criteria proposed by Coutinho and the Ministry of Health, although not very useful in evaluating the progression of the disease. 83.3% of experts understand that the therapy currently available in the SUS meets the needs of patients in stage I of the disease, however, all experts point out unmet care needs, since this drug has no defined benefit for stages II and III of the disease. Disease progression is defined as any new symptom or worsening of pre-existing ones, and no change in the stage of the disease is necessary to characterize such an event. Conclusions: The conduction of this study allowed to identify important aspects to a better understanding of the clinical care practice in the country and unmet needs of these patients

Left atrial function and volume by magnetic resonance in patients with hereditary amyloidosis

ABSTRACT Background Left atrial (LA) enlargement is a reliable predictor of adverse cardiovascular events, and reduced atrial function is an independent risk factor for mortality in patients with amyloidosis. The objective of this study was to characterize the LA function in Mexican patients with a confirmed diagnosis of hereditary transthyretin amyloidosis (amyloid transthyretin [ATTR]) Methods All consecutive patients with diagnosis of hereditary ATTR who underwent a cardiac magnetic resonance study in the period from March 2016 to June 2017 were included in the study; the volumes and function of the left atrium were evaluated Results Patients were divided into two groups, one with and one without cardiac amyloidosis. Statistically significant differences were observed between both groups in terms of indexed maximal LA volume, 26 mL versus 35.9mL, p = 0.03; indexed minimal LA volume, 10.7 mL versus 13.6mL, p = 0.03; and indexed LA pre-contraction volume, 17 mL versus 22.4mL, p = 0.03. No statistically significant differences were observed between both groups when comparing neither different ejection volumes nor the different ejection fractions Conclusions Patients with hereditary ATTR with cardiac involvement have remodeling of the left atrium, with increased atrial volumes, without diminishing its function.

Promoção da saúde em famílias com paramiloidose: papéis dos mais velhos junto dos mais novos / Health promotion in families with paramyloidosis: the role of elders with younger family members / Promoción de la salud en familias con paramiloidosis: papeles de los más viejos junto a los más jóvenes

Resumo: Atualmente os cidadãos são parceiros dos sistemas formais na promoção da saúde. Na gestão das doenças hereditárias, o papel dos familiares como fonte de suporte é vital. O papel dos mais velhos emerge como crucial pela longa relação com a doença e com os doentes na família. Contudo, esse papel permanece pouco explorado, em particular, em doenças genéticas, como a paramiloidose. Este estudo qualitativo exploratório analisa o papel dos mais velhos, em famílias com paramiloidose, na promoção da saúde dos mais novos. Adotou-se a técnica dos incidentes críticos, aplicada por entrevista semiestruturada. O estudo envolve 18 participantes que relataram 76 incidentes críticos. As entrevistas foram gravadas e submetidas a análise de conteúdo. Os principais resultados sugerem os seguintes papéis dos mais velhos junto dos mais novos: modelar (comportamentos), encorajar, informar e apoiar. As gerações mais velhas podem ser envolvidas pelos profissionais de saúde como parceiras no apoio aos mais novos em famílias com paramiloidose.

Abstract: Citizens are now partners in the formal health promotion system. In the management of hereditary diseases, the role of family members is a vital source of support. Elders play a crucial role due to their long relationship with the disease and with patients in the family. However, this role has still been insufficiently explored, particularly in genetic disorders like paramyloidosis. This exploratory qualitative study analyzes the role of elders in families with paramyloidosis, in health promotion for younger members. The critical incidents technique was applied using a semi-structured interview. The study involved 18 participants who reported 76 critical incidents. The interviews were taped and submitted to content analysis. The principal results suggest the following roles for elders with younger family members: act as role models (in behaviors), encourage, inform, and support. The older generations can be mobilized by health professionals as partners to support younger generations in families with paramyloidosis.

Resumen: Actualmente, los ciudadanos son agentes activos en los sistemas formales en la promoción de la salud. En la gestión de las enfermedades hereditarias, el papel de los familiares como fuente de apoyo es vital. El papel de los más viejos emerge como crucial por la larga relación con la enfermedad y con los enfermos en la familia. No obstante, este papel permanece poco explorado, en particular, en enfermedades genéticas, como la paramiloidosis. Este estudio cualitativo exploratorio analiza el papel de los más viejos, en familias con paramiloidosis, en la promoción de la salud de los más jóvenes. Se adoptó la técnica de los incidentes críticos, aplicada por entrevista semiestructurada. El estudio involucró a 18 participantes que relataron 76 incidentes críticos. Las entrevistas fueron grabadas y sometidas a un análisis de contenido. Los principales resultados sugieren los siguientes papeles de los más viejos, junto a los más jóvenes: modelar (comportamientos), animar, informar y apoyar. Las generaciones más viejas pueden estar involucradas por los profesionales de salud como agentes activos en el apoyo a los más jóvenes en familias con paramiloidosis.

A Case of Familial Cardiac Amyloidosis

Amyloidosis is defined by the extracellular deposition of fibrillar proteinacious material that binds Congo red dye. Amyloid fibrils can be deposited locally, but can involve virtually every organ system of the body. Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen Aalpha-chain, lysozyme or apolipoprotein A-I, is-extremely rare. A case of familial amyloidosis, involving the heart, was identified, where the patient complained exertional dyspnea. The echocardiographic findings were the markedly thickened the interventricular septum and right ventricular wall, as well as a granular sparkling appearance in the interventricular septum. On admission, the patient, and his younger brother, underwent endomyocardial biopsies, and the results of the Congo red staining and EM were consistent with amyloidosis. The patient was managed conservatively, and discharged without complication.

A Case of Familial Cardiac Amyloidosis

Amyloidosis is defined by the extracellular deposition of fibrillar proteinacious material that binds Congo red dye. Amyloid fibrils can be deposited locally, but can involve virtually every organ system of the body. Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen Aalpha-chain, lysozyme or apolipoprotein A-I, is-extremely rare. A case of familial amyloidosis, involving the heart, was identified, where the patient complained exertional dyspnea. The echocardiographic findings were the markedly thickened the interventricular septum and right ventricular wall, as well as a granular sparkling appearance in the interventricular septum. On admission, the patient, and his younger brother, underwent endomyocardial biopsies, and the results of the Congo red staining and EM were consistent with amyloidosis. The patient was managed conservatively, and discharged without complication.