Neste segundo episódio da PEBMED em parceria com a Pfizer, Marcelo Gobbo e Viviane Carvalho abordam um pouco mais sobre a investigação da doença rara PAF, Polineuropatia Amiloidótica Familiar, para diagnóstico precoce e diferenciais. 

Referências bibliográficas:

1- Luiz F. Pinto, et al. The most common amyloidosis are both treatable; accurate diagnosis is paramount. Practical Neurology, July, 2021.

2- Salvi F, 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.  

3-Sopacua M, Hoeijmakers JGJ, Merkies ISJ, Lauria G, Waxman SG, Faber CG. Small-fiber neuropathy: Expanding the clinical pain universe. J Peripher Nerv Syst. 2019 Mar;24(1):19-33. doi: 10.1111/jns.12298. Epub 2019 Jan 8. PMID: 30569495. 

4- Sekijima, Y. Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. J Neurol Neurosurg Psychiatry. 2015;86(9):1036-43. 

5- Ando Y, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013; 8(1):31.

6- Adams D, et al. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol. 2016;29(suppl. 1):S14-26.  

7-Du K, Xu K, Cheng S, Lv H, Zhang W, Wang Z, Yuan Y, Meng L. Nerve Ultrasound Comparison Between Transthyretin Familial Amyloid Polyneuropathy and Chronic Inflammatory Demyelinating Polyneuropathy. Front Neurol. 2021 Feb 26;12:632096. doi: 10.3389/fneur.2021.632096. PMID: 33716932; PMCID: PMC7953716. 

8- Ministério da Saúde (Brasil). Comissão Nacional de Incorporação de Tecnologias no SUS (CONITEC). Relatório de recomendação: Tafamidis meglumina no tratamento da polineuropatia amiloidótica familiar relacionada à proteína transtirretina. Brasília: Ministério da Saúde; 2018. 43 p  

9-Conceição I, et al. “Redflag” symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016;21:5–9.