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

Marcus Vinicius Pinto, Marcondes Cavalcante França, Marcus Vinicius Magno Gonçalves, Marcela Câmara Machado-Costa, Marcos Raimundo Gomes de Freitas, Francisco de Assis Aquino Gondim, Carlo Domenico Marrone, Alberto Rolim Muro Martinez, Carolina Lavigne Moreira, Osvaldo J. M. Nascimento, Anna Paula Paranhos Covaleski, Acary Souza Bulle de Oliveira, Camila Castelo Branco Pupe, Marcia Maria Jardim Rodrigues, Francisco Tellechea Rotta, Rosana Herminia Scola, Wilson Marques, Márcia Waddington-Cruz

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.