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. 2023 Mar;81(3):308-321.
doi: 10.1055/s-0043-1764412. Epub 2023 Apr 14.

Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition

Marcus Vinicius Pinto  1   2 , Marcondes Cavalcante França Jr  3 , Marcus Vinicius Magno Gonçalves  4 , Marcela Câmara Machado-Costa  5 , Marcos Raimundo Gomes de Freitas  1 , Francisco de Assis Aquino Gondim  6 , Carlo Domenico Marrone  7 , Alberto Rolim Muro Martinez  3 , Carolina Lavigne Moreira  8 , Osvaldo J M Nascimento  9 , Anna Paula Paranhos Covaleski  10 , Acary Souza Bulle de Oliveira  11 , Camila Castelo Branco Pupe  9 , Marcia Maria Jardim Rodrigues  12 , Francisco Tellechea Rotta  13   14 , Rosana Herminia Scola  15 , Wilson Marques Jr  8 , Márcia Waddington-Cruz  1
Affiliations

Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition

Marcus Vinicius Pinto et al. Arq Neuropsiquiatr. 2023 Mar.

Abstract
in English, Portuguese

Hereditary transthyretin amyloidosis with peripheral neuropathy (ATTRv-PN) is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy with over 130 pathogenic variants identified in the TTR gene. Hereditary transthyretin amyloidosis with peripheral neuropathy is a disabling, progressive and life-threatening genetic condition that leads to death in ∼ 10 years if untreated. The prospects for ATTRv-PN have changed in the last decades, as it has become a treatable neuropathy. In addition to liver transplantation, initiated in 1990, there are now at least 3 drugs approved in many countries, including Brazil, and many more are being developed. The first Brazilian consensus on ATTRv-PN was held in the city of Fortaleza, Brazil, in June 2017. Given the new advances in the area over the last 5 years, the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology organized a second edition of the consensus. Each panelist was responsible for reviewing the literature and updating a section of the previous paper. Thereafter, the 18 panelists got together virtually after careful review of the draft, discussed each section of the text, and reached a consensus for the final version of the manuscript.

Polineuropatia amiloidótica familiar associada a transtirretina (ATTRv-PN) é uma polineuropatia sensitivo-motora e autonômica hereditária autossômica dominante com mais de 130 variantes patogênicas já identificadas no gene TTR. A ATTRv-PN é uma condição genética debilitante, progressiva e que ameaça a vida, levando à morte em ∼ 10 anos se não for tratada. Nas últimas décadas, a ATTRv-PN se tornou uma neuropatia tratável. Além do transplante de fígado, iniciado em 1990, temos agora 3 medicamentos modificadores de doença aprovados em muitos países, incluindo o Brasil, e muitas outras medicações estão em desenvolvimento. O primeiro consenso brasileiro em ATTRv-PN foi realizado em Fortaleza em junho de 2017. Devido aos novos avanços nesta área nos últimos 5 anos, o Departamento Científico de Neuropatias Periféricas da Academia Brasileira de Neurologia organizou uma segunda edição do consenso. Cada panelista ficou responsável por rever a literatura e atualizar uma parte do manuscrito. Finalmente, os 18 panelistas se reuniram virtualmente após revisão da primeira versão, discutiram cada parte do artigo e chegaram a um consenso sobre a versão final do manuscrito.

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Conflict of interest statement

MVP, MVG, MCMC, MRGF, CDM, ARMM, CLM, OJMN, APPMC, ASBO, CCBP, MMJR, FTR, RHS: report no financial disclosures. MCFJ: received honorarium from Pfizer and PTC for financial support for research; Ionis for acting as a principal investigator in clinical trials; Pfizer, PTC and Alnylam for travel expenses related to presentations at medical meetings; Pfizer, PTC and Alnylan for acting as an advisory board member. FAAG, ARMM: received honorarium from Pfizer for travel expenses related to presentations at medical meetings. WMJ: received honorarium from Pfizer, Alnylam and PTC for travel expenses related to presentations at medical meetings, for acting as a principal investigator in clinical trials and/or as a consultant member. MWC: received honorarium from NHI, Prothena, FoldRx, Ionis, Pfizer, Alnylam, PTC, Astra Zeneca, Novonordisk, and Genzyme for travel expenses related to presentations at medical meetings, for acting as a principal investigator in clinical trials and/or as a consultant member.

Figures

Figure 1
Figure 1
A. Amyloid material deposition in a vessel wall (left) and in the adjacent endoneurial space on Congo red staining (sural nerve biopsy). B. The section A under polarized light shows the amyloid material birefringence appearing here as apple-green and golden-yellow colors. C. Electropherogram of TTR gene shows the c.148G > A(Val30Met) mutation. D. Semithin section stained with Toluidine Blue shows axonal loss. F. Normal sural nerve for comparison with D. E. Percentage histograms of the myelinic fibers seen in D demonstrate the predominance of thin myelinated fiber (7 µm or less diameter) loss in comparison with the normal histogram represented in G. Scale bars = 50 µm. Images A-E are from the same patient specimens.
Figure 2
Figure 2
TTR amyloidogenesis and disease modifying therapies.
See this image and copyright information in PMC

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