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Familial amyloid polyneuropathy, type VI

MedGen UID:
78668
Concept ID:
C0268383
Disease or Syndrome
Synonyms: Familial Amyloid Polyneuropathy, Type VI; Type VI Familial Amyloid Polyneuropathy
SNOMED CT: Familial amyloid polyneuropathy, type VI (5134006)

Professional guidelines

PubMed

Stern LK, Patel J
Methodist Debakey Cardiovasc J 2022;18(2):59-72. Epub 2022 Mar 14 doi: 10.14797/mdcvj.1050. PMID: 35414852Free PMC Article
Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G
J Neurol 2021 Jun;268(6):2109-2122. Epub 2020 Jan 6 doi: 10.1007/s00415-019-09688-0. PMID: 31907599Free PMC Article
Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, Grogan M, Kristen AV, Lousada I, Nativi-Nicolau J, Cristina Quarta C, Rapezzi C, Ruberg FL, Witteles R, Merlini G
Circ Heart Fail 2019 Sep;12(9):e006075. Epub 2019 Sep 4 doi: 10.1161/CIRCHEARTFAILURE.119.006075. PMID: 31480867Free PMC Article

Recent clinical studies

Etiology

Coelho T, Marques W Jr, Dasgupta NR, Chao CC, Parman Y, França MC Jr, Guo YC, Wixner J, Ro LS, Calandra CR, Kowacs PA, Berk JL, Obici L, Barroso FA, Weiler M, Conceição I, Jung SW, Buchele G, Brambatti M, Chen J, Hughes SG, Schneider E, Viney NJ, Masri A, Gertz MR, Ando Y, Gillmore JD, Khella S, Dyck PJB, Waddington Cruz M; NEURO-TTRansform Investigators
JAMA 2023 Oct 17;330(15):1448-1458. doi: 10.1001/jama.2023.18688. PMID: 37768671Free PMC Article
Adams D, Tournev IL, Taylor MS, Coelho T, Planté-Bordeneuve V, Berk JL, González-Duarte A, Gillmore JD, Low SC, Sekijima Y, Obici L, Chen C, Badri P, Arum SM, Vest J, Polydefkis M; HELIOS-A Collaborators
Amyloid 2023 Mar;30(1):1-9. Epub 2022 Jul 23 doi: 10.1080/13506129.2022.2091985. PMID: 35875890
Manganelli F, Fabrizi GM, Luigetti M, Mandich P, Mazzeo A, Pareyson D
Neurol Sci 2022 Dec;43(Suppl 2):595-604. Epub 2020 Nov 14 doi: 10.1007/s10072-020-04889-2. PMID: 33188616Free PMC Article
Gillmore JD, Gane E, Taubel J, Kao J, Fontana M, Maitland ML, Seitzer J, O'Connell D, Walsh KR, Wood K, Phillips J, Xu Y, Amaral A, Boyd AP, Cehelsky JE, McKee MD, Schiermeier A, Harari O, Murphy A, Kyratsous CA, Zambrowicz B, Soltys R, Gutstein DE, Leonard J, Sepp-Lorenzino L, Lebwohl D
N Engl J Med 2021 Aug 5;385(6):493-502. Epub 2021 Jun 26 doi: 10.1056/NEJMoa2107454. PMID: 34215024
Planté-Bordeneuve V, Said G
Lancet Neurol 2011 Dec;10(12):1086-97. doi: 10.1016/S1474-4422(11)70246-0. PMID: 22094129

Diagnosis

Brito D, Albrecht FC, de Arenaza DP, Bart N, Better N, Carvajal-Juarez I, Conceição I, Damy T, Dorbala S, Fidalgo JC, Garcia-Pavia P, Ge J, Gillmore JD, Grzybowski J, Obici L, Piñero D, Rapezzi C, Ueda M, Pinto FJ
Glob Heart 2023;18(1):59. Epub 2023 Oct 26 doi: 10.5334/gh.1262. PMID: 37901600Free PMC Article
Manganelli F, Fabrizi GM, Luigetti M, Mandich P, Mazzeo A, Pareyson D
Neurol Sci 2022 Dec;43(Suppl 2):595-604. Epub 2020 Nov 14 doi: 10.1007/s10072-020-04889-2. PMID: 33188616Free PMC Article
Garcia-Pavia P, Domínguez F, Gonzalez-Lopez E
Med Clin (Barc) 2021 Feb 12;156(3):126-134. Epub 2020 Oct 31 doi: 10.1016/j.medcli.2020.06.064. PMID: 33138983
Gillmore JD, Damy T, Fontana M, Hutchinson M, Lachmann HJ, Martinez-Naharro A, Quarta CC, Rezk T, Whelan CJ, Gonzalez-Lopez E, Lane T, Gilbertson JA, Rowczenio D, Petrie A, Hawkins PN
Eur Heart J 2018 Aug 7;39(30):2799-2806. doi: 10.1093/eurheartj/ehx589. PMID: 29048471
Planté-Bordeneuve V, Said G
Lancet Neurol 2011 Dec;10(12):1086-97. doi: 10.1016/S1474-4422(11)70246-0. PMID: 22094129

Therapy

Nie T
Drugs 2024 Apr;84(4):473-478. doi: 10.1007/s40265-024-02008-5. PMID: 38413492Free PMC Article
Coelho T, Marques W Jr, Dasgupta NR, Chao CC, Parman Y, França MC Jr, Guo YC, Wixner J, Ro LS, Calandra CR, Kowacs PA, Berk JL, Obici L, Barroso FA, Weiler M, Conceição I, Jung SW, Buchele G, Brambatti M, Chen J, Hughes SG, Schneider E, Viney NJ, Masri A, Gertz MR, Ando Y, Gillmore JD, Khella S, Dyck PJB, Waddington Cruz M; NEURO-TTRansform Investigators
JAMA 2023 Oct 17;330(15):1448-1458. doi: 10.1001/jama.2023.18688. PMID: 37768671Free PMC Article
Kaur D, Tiwana H, Stino A, Sandroni P
Muscle Nerve 2021 Jan;63(1):10-21. Epub 2020 Sep 14 doi: 10.1002/mus.27048. PMID: 32926436
Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, Kristen AV, Grogan M, Witteles R, Damy T, Drachman BM, Shah SJ, Hanna M, Judge DP, Barsdorf AI, Huber P, Patterson TA, Riley S, Schumacher J, Stewart M, Sultan MB, Rapezzi C; ATTR-ACT Study Investigators
N Engl J Med 2018 Sep 13;379(11):1007-1016. Epub 2018 Aug 27 doi: 10.1056/NEJMoa1805689. PMID: 30145929
Cullis PR, Hope MJ
Mol Ther 2017 Jul 5;25(7):1467-1475. Epub 2017 Apr 13 doi: 10.1016/j.ymthe.2017.03.013. PMID: 28412170Free PMC Article

Prognosis

Brito D, Albrecht FC, de Arenaza DP, Bart N, Better N, Carvajal-Juarez I, Conceição I, Damy T, Dorbala S, Fidalgo JC, Garcia-Pavia P, Ge J, Gillmore JD, Grzybowski J, Obici L, Piñero D, Rapezzi C, Ueda M, Pinto FJ
Glob Heart 2023;18(1):59. Epub 2023 Oct 26 doi: 10.5334/gh.1262. PMID: 37901600Free PMC Article
Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS
J Am Coll Cardiol 2019 Jun 11;73(22):2872-2891. doi: 10.1016/j.jacc.2019.04.003. PMID: 31171094Free PMC Article
Gillmore JD, Damy T, Fontana M, Hutchinson M, Lachmann HJ, Martinez-Naharro A, Quarta CC, Rezk T, Whelan CJ, Gonzalez-Lopez E, Lane T, Gilbertson JA, Rowczenio D, Petrie A, Hawkins PN
Eur Heart J 2018 Aug 7;39(30):2799-2806. doi: 10.1093/eurheartj/ehx589. PMID: 29048471
Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, Wechalekar AD, Berk JL, Quarta CC, Grogan M, Lachmann HJ, Bokhari S, Castano A, Dorbala S, Johnson GB, Glaudemans AW, Rezk T, Fontana M, Palladini G, Milani P, Guidalotti PL, Flatman K, Lane T, Vonberg FW, Whelan CJ, Moon JC, Ruberg FL, Miller EJ, Hutt DF, Hazenberg BP, Rapezzi C, Hawkins PN
Circulation 2016 Jun 14;133(24):2404-12. Epub 2016 Apr 22 doi: 10.1161/CIRCULATIONAHA.116.021612. PMID: 27143678
Planté-Bordeneuve V, Said G
Lancet Neurol 2011 Dec;10(12):1086-97. doi: 10.1016/S1474-4422(11)70246-0. PMID: 22094129

Clinical prediction guides

Coelho T, Marques W Jr, Dasgupta NR, Chao CC, Parman Y, França MC Jr, Guo YC, Wixner J, Ro LS, Calandra CR, Kowacs PA, Berk JL, Obici L, Barroso FA, Weiler M, Conceição I, Jung SW, Buchele G, Brambatti M, Chen J, Hughes SG, Schneider E, Viney NJ, Masri A, Gertz MR, Ando Y, Gillmore JD, Khella S, Dyck PJB, Waddington Cruz M; NEURO-TTRansform Investigators
JAMA 2023 Oct 17;330(15):1448-1458. doi: 10.1001/jama.2023.18688. PMID: 37768671Free PMC Article
Adams D, Tournev IL, Taylor MS, Coelho T, Planté-Bordeneuve V, Berk JL, González-Duarte A, Gillmore JD, Low SC, Sekijima Y, Obici L, Chen C, Badri P, Arum SM, Vest J, Polydefkis M; HELIOS-A Collaborators
Amyloid 2023 Mar;30(1):1-9. Epub 2022 Jul 23 doi: 10.1080/13506129.2022.2091985. PMID: 35875890
Gillmore JD, Gane E, Taubel J, Kao J, Fontana M, Maitland ML, Seitzer J, O'Connell D, Walsh KR, Wood K, Phillips J, Xu Y, Amaral A, Boyd AP, Cehelsky JE, McKee MD, Schiermeier A, Harari O, Murphy A, Kyratsous CA, Zambrowicz B, Soltys R, Gutstein DE, Leonard J, Sepp-Lorenzino L, Lebwohl D
N Engl J Med 2021 Aug 5;385(6):493-502. Epub 2021 Jun 26 doi: 10.1056/NEJMoa2107454. PMID: 34215024
Adams D, Gonzalez-Duarte A, O'Riordan WD, Yang CC, Ueda M, Kristen AV, Tournev I, Schmidt HH, Coelho T, Berk JL, Lin KP, Vita G, Attarian S, Planté-Bordeneuve V, Mezei MM, Campistol JM, Buades J, Brannagan TH 3rd, Kim BJ, Oh J, Parman Y, Sekijima Y, Hawkins PN, Solomon SD, Polydefkis M, Dyck PJ, Gandhi PJ, Goyal S, Chen J, Strahs AL, Nochur SV, Sweetser MT, Garg PP, Vaishnaw AK, Gollob JA, Suhr OB
N Engl J Med 2018 Jul 5;379(1):11-21. doi: 10.1056/NEJMoa1716153. PMID: 29972753
Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, Wechalekar AD, Berk JL, Quarta CC, Grogan M, Lachmann HJ, Bokhari S, Castano A, Dorbala S, Johnson GB, Glaudemans AW, Rezk T, Fontana M, Palladini G, Milani P, Guidalotti PL, Flatman K, Lane T, Vonberg FW, Whelan CJ, Moon JC, Ruberg FL, Miller EJ, Hutt DF, Hazenberg BP, Rapezzi C, Hawkins PN
Circulation 2016 Jun 14;133(24):2404-12. Epub 2016 Apr 22 doi: 10.1161/CIRCULATIONAHA.116.021612. PMID: 27143678

Recent systematic reviews

Rehman S, Masthan SS, Ibrahim R, Pham HN, Hassan D, Ahmad F, Asif MS, Safdar A, Anwar Z, Raza S, William P
Eur Heart J Cardiovasc Pharmacother 2024 Oct 4;10(6):547-556. doi: 10.1093/ehjcvp/pvae044. PMID: 38830793
Antonopoulos AS, Panagiotopoulos I, Kouroutzoglou A, Koutsis G, Toskas P, Lazaros G, Toutouzas K, Tousoulis D, Tsioufis K, Vlachopoulos C
Eur J Heart Fail 2022 Sep;24(9):1677-1696. Epub 2022 Aug 2 doi: 10.1002/ejhf.2589. PMID: 35730461
Bay K, Gustafsson F, Maiborg M, Bagger-Bahnsen A, Strand AM, Pilgaard T, Poulsen SH
ESC Heart Fail 2022 Jun;9(3):1524-1541. Epub 2022 Mar 27 doi: 10.1002/ehf2.13884. PMID: 35343098Free PMC Article
Magrinelli F, Fabrizi GM, Santoro L, Manganelli F, Zanette G, Cavallaro T, Tamburin S
Cochrane Database Syst Rev 2020 Apr 20;4(4):CD012395. doi: 10.1002/14651858.CD012395.pub2. PMID: 32311072Free PMC Article
Finsterer J, Iglseder S, Wanschitz J, Topakian R, Löscher WN, Grisold W
Acta Neurol Scand 2019 Feb;139(2):92-105. Epub 2018 Oct 23 doi: 10.1111/ane.13035. PMID: 30295933

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