Neste episódio especial da PEBMED em parceria com a Pfizer, Marcelo Gobbo, médico de comunidade e família e editor médico do Portal recebe a neurologista Viviane Carvalho para falar sobre PAF, a Polineuropatia Amiloidótica Familiar, uma condição rara que pode ter sua trajetória modificada quando identificada precocemente e adequadamente tratada. Referências Bibliográficas: 1- Picken MM. The Pathology of Amyloidosis in Classification: A Review. Acta Haematol. 2020;143(4):322-334. doi: 10.1159/000506696. Epub 2020 May 11. PMID: 32392555. 2- Adams D, Koike H, Slama M, Coelho T. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol. 2019 Jul;15(7):387-404. doi: 10.1038/s41582-019-0210-4. Epub 2019 Jun 17. PMID: 31209302. 3- Guevara C, Barrientos N, Flores A, Idiáquez J. Polineuropatia amiloidótica familiar tipo I. Rev Méd Chile. 2003;131:1179-82. 4- Centenário do nascimento de Corino de Andrade. Sinapse, publicação da Sociedade Portuguesa de Neurologia, Suplemento 1, Volume 6, Nº1, Maio de 2006. 5- Andrade, C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952 Sep;75(3):408-27. doi: 10.1093/brain/75.3.408. PMID: 12978172.) 6- Saporta, M. A. C., C Zaros, M W Cruz, C André, M Misrahi, et al. "Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families." European journal of neurology 16.3 (2009): 337-341. 7- Vieira M, Saraiva MJ. Transthyretin: a multifaceted protein. Biomol Concepts. 2014 Mar;5(1):45-54. doi: 10.1515/bmc-2013-0038. PMID: 25372741. 8- Galant NJ, Westermark P, Higaki JN, Chakrabartty Al. Transthyretin amyloidosis: an under-recognized neuropathy and cardiomyopathy. Clin Sci. 2017 ;131(5):395-409 9-Simões M. V., Fernandes F, Marcondes-Braga F, Scheinberg P, Correia E, et al. Posicionamento sobre Diagnóstico e Tratamento da Amiloidose Cardíaca (2021). Arquivos Brasileiros de Cardiologia, 117, 561-598. 10- Bonaiti B, Olson M, Hellman U, Surh O, Bonaiti-Pellie C, et al. TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance? Eur J Hum Genet. 2010;18(8):948- 52 11- Ando Y, Coelho T, Berk J, Cruz M, Ericzon B-G, et al. Guideline of transthyretin- related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31 12- Salvi F, Pastorelli F, Plasmati R, Bartolomei I, Dall’Osso D, et al. Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis. Amyloid. 2012;19 Suppl 1:58-60. 13-Gertz MA, Benson M, Dyck PJ, Grogan M, et al. Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis. J Am Coll Cardiol. 2015 Dec 1;66(21):2451-2466. doi: 10.1016/j.jacc.2015.09.075. PMID: 26610878 14- Luiz F. Pinto, MD; and Marcus V. Pinto, MD, MS. The most common amyloidosis are both treatable; accurate diagnosis is paramount. Practical Neurology, July, 2021.

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