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      Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy Translated title: Consenso Brasileiro para o diagnóstico, manejo e tratamento da Polineuropatia Amiloidótica Familiar associada à Transtirretina

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          Abstract

          ABSTRACT Transthyretin familial amyloid polyneuropathy is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy, which if untreated, leads to death in approximately 10 years. In Brazil, liver transplant and tafamidis are the only disease-modifying treatments available. This review consists of a consensus for the diagnosis, management and treatment for transthyretin familial amyloid polyneuropathy from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology. The first and last authors produced a draft summarizing the main views on the subject and emailed the text to 10 other specialists. Relevant literature on this subject was reviewed by each participant and used for the individual review of the whole text. Each participant was expected to review the text and send a feedback review by e-mail. Thereafter, the 12 panelists got together at the city of Fortaleza, discussed the controversial points, and reached a consensus for the final text.

          Translated abstract

          RESUMO Polineuropatia amiloidótica familiar é uma polineuropatia sensitivo-motora e autonômica de herança autossômica dominante, que caso não seja tratada leva a morte em aproximadamente 10 anos. O transplante de fígado e o tafamidis são os únicos tratamentos disponíveis no Brasil. Essa revisão consiste em um consenso do Departamento Científico de Neuropatias Periféricas da Academia Brasileira de Neurologia. O primeiro e último autores produziram um texto resumindo os principais aspectos sobre o tema e enviaram para os outros 10 especialistas por email. A literatura relevante sobre o assunto foi revisada por cada participante e utilizada para revisão individual do texto. Foi esperado que cada participante revisasse o texto e enviasse suas sugestões por e-mail. Finalmente, os 12 panelistas se encontraram na cidade de Fortaleza para discutir os pontos controversos e chegar a um consenso sobre texto final.

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          Most cited references 51

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          A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves.

           Luis Andrade (1952)
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            Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas.

            The objective of this study was to elucidate the natural history of late-onset transthyretin Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) in non-endemic areas. The authors retrospectively assessed the development of major clinical landmarks and abnormalities of nerve conduction and cardiac examination indices in 50 patients with an age of onset older than 50 years and no relationship to endemic foci. Once the neuropathic process was initiated, sensory and motor symptoms of both the upper and lower extremities appeared within a period of one and a half years. Digestive and orthostatic symptoms also tended to occur in the early phase of the disease, whereas urinary symptoms appeared in the middle of the disease progress. Along with pain in the extremities, these symptoms progressed over time and significantly disturbed the quality of life during the late phase of the disease, resulting in the need for wheelchair use. Although cardiomyopathy became clinically apparent only in the late phase of the disease, it was found to be the major cause of death. The mean duration of the disease onset to death was 7.3 years. Although values at the time of diagnosis were extremely variable, serial measurements of electrophysiological indices, the cardiothoracic ratio and interventricular septum thickness indicated a steady exacerbation in these outcomes among patients within a span of a couple of years. The ages of onset of each clinical landmark were extremely variable between patients. However, once an initial symptom appeared, the chronological sequence of other clinical landmarks tended to be uniform, occurring within a relatively short time span.
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              Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis.

              Familial amyloid polyneuropathy (FAP) is a fatal autosomal dominant disorder. Progressive peripheral and autonomic neuropathy are associated with neural and visceral deposition of amyloid, derived most commonly from the Met-30 variant of the plasma protein transthyretin. We have reported previously that orthotopic liver transplantation causes prompt replacement of variant transthyretin by the donor wild-type in the plasma. We now report clinical outcome 1-2 years after transplantation. Three of the first four patients have improved general wellbeing, walking ability, and bowel function, and one of them has regained normal bladder and bowel function. There has been little objective improvement in peripheral neuropathy. The fourth patient, who had the most severe neurological deficits and a complicated postoperative course, has not improved but there has been no further deterioration in contrast to the inexorable progression before transplantation. Quantitative scintigraphy with radiolabelled serum amyloid P component showed visceral amyloid deposits in all three patients studied; in two who were followed serially the deposits regressed after transplantation in association with the clinical improvement. Another FAP patient who was also monitored prospectively for 2 years but who did not undergo transplantation, showed, as expected, progression of neuropathy and increased visceral amyloid deposition. Liver transplantation does therefore have important benefits in FAP during the first 2 years after surgery. Neurological decline is halted and amyloid deposits can be mobilised. The best timing and long-term results of the procedure must now be established.
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                Author and article information

                Contributors
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                Journal
                anp
                Arquivos de Neuro-Psiquiatria
                Arq. Neuro-Psiquiatr.
                Academia Brasileira de Neurologia - ABNEURO (São Paulo, SP, Brazil )
                0004-282X
                1678-4227
                September 2018
                : 76
                : 9
                : 609-621
                Affiliations
                Rio de Janeiro Rio de Janeiro orgnameUniversidade Federal do Rio de Janeiro orgdiv1Hospital Universitário Clementino Fraga Filho orgdiv2Centro de Estudos em Paramiloidose Antônio Rodrigues de Mello Brazil
                Ribeirão Preto orgnameUniversidade de São Paulo orgdiv1Faculdade de Medicina de Ribeirão Preto Brazil
                Fortaleza Ceará orgnameUniversidade Federal do Ceará orgdiv1Faculdade de Medicina Brazil
                Porto Alegre Rio Grande do Sul orgnamePontifícia Universidade Católica do Rio Grande do Sul orgdiv1Hospital São Lucas orgdiv2Clínica Marrone e Ambulatório de Doenças Neuromusculares Brazil
                São Paulo orgnameUniversidade Federal de São Paulo orgdiv1Escola Paulista de Medicina Brazil
                Campinas São Paulo orgnameUniversidade Estadual de Campinas orgdiv1Faculdade de Ciências Médicas Brazil
                Fortaleza CE orgnameCentro Universitário Unichristus Brasil
                Porto Alegre Rio Grande do Sul orgnameHospital Moinhos de Vento Brazil
                Porto Alegre Rio Grande do Sul orgnameSanta Casa de Misericórdia de Porto Alegre Brazil
                Niterói Rio de Janeiro orgnameUniversidade Federal Fluminense Brazil
                Article
                S0004-282X2018000900609
                10.1590/0004-282x20180094

                This work is licensed under a Creative Commons Attribution 4.0 International License.

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                Figures: 0, Tables: 0, Equations: 0, References: 85, Pages: 13
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