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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

Capovilla TM, Lalario A, Rossi M, Porcari A, Aimo A, Limongelli G, Emdin M, Merlo M, Sinagra G
Heart Fail Clin 2024 Jul;20(3):333-341. Epub 2024 Apr 12 doi: 10.1016/j.hfc.2024.03.007. PMID: 38844304
Monda E, Cirillo C, Verrillo F, Palmiero G, Falco L, Aimo A, Emdin M, Merlo M, Limongelli G
Heart Fail Clin 2024 Jul;20(3):317-323. Epub 2024 Apr 10 doi: 10.1016/j.hfc.2024.03.006. PMID: 38844302
Lorenzini M, Elliott PM
Future Cardiol 2019 Mar;15(2):53-61. Epub 2019 Feb 15 doi: 10.2217/fca-2018-0078. PMID: 30767672

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
Kristen AV
Herz 2020 May;45(3):267-271. doi: 10.1007/s00059-020-04904-4. PMID: 32107564
Witteles RM, Bokhari S, Damy T, Elliott PM, Falk RH, Fine NM, Gospodinova M, Obici L, Rapezzi C, Garcia-Pavia P
JACC Heart Fail 2019 Aug;7(8):709-716. Epub 2019 Jul 10 doi: 10.1016/j.jchf.2019.04.010. PMID: 31302046
González-López E, Gallego-Delgado M, Guzzo-Merello G, de Haro-Del Moral FJ, Cobo-Marcos M, Robles C, Bornstein B, Salas C, Lara-Pezzi E, Alonso-Pulpon L, Garcia-Pavia P
Eur Heart J 2015 Oct 7;36(38):2585-94. Epub 2015 Jul 28 doi: 10.1093/eurheartj/ehv338. PMID: 26224076
Sayed RH, Hawkins PN, Lachmann HJ
Kidney Int 2015 Mar;87(3):516-26. Epub 2014 Dec 3 doi: 10.1038/ki.2014.368. PMID: 25469850

Diagnosis

Tsoi MR, Lin JH, Patel AR
Curr Oncol Rep 2023 Jun;25(6):549-558. Epub 2023 Mar 21 doi: 10.1007/s11912-023-01397-2. PMID: 36943555
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
Kristen AV
Herz 2020 May;45(3):267-271. doi: 10.1007/s00059-020-04904-4. PMID: 32107564
Witteles RM, Bokhari S, Damy T, Elliott PM, Falk RH, Fine NM, Gospodinova M, Obici L, Rapezzi C, Garcia-Pavia P
JACC Heart Fail 2019 Aug;7(8):709-716. Epub 2019 Jul 10 doi: 10.1016/j.jchf.2019.04.010. PMID: 31302046
Donnelly JP, Hanna M
Cleve Clin J Med 2017 Dec;84(12 Suppl 3):12-26. doi: 10.3949/ccjm.84.s3.02. PMID: 29257735

Therapy

Bampatsias D, Wardhere A, Maurer MS
Curr Opin Cardiol 2024 Sep 1;39(5):407-416. Epub 2024 Apr 19 doi: 10.1097/HCO.0000000000001156. PMID: 38652263Free PMC Article
Keam SJ
Drugs 2022 Sep;82(13):1419-1425. Epub 2022 Aug 23 doi: 10.1007/s40265-022-01765-5. PMID: 35997942
Habtemariam BA, Karsten V, Attarwala H, Goel V, Melch M, Clausen VA, Garg P, Vaishnaw AK, Sweetser MT, Robbie GJ, Vest J
Clin Pharmacol Ther 2021 Feb;109(2):372-382. Epub 2020 Aug 13 doi: 10.1002/cpt.1974. PMID: 32599652
Marques HP, Barros I, Li J, Murad SD, di Benedetto F
Int J Surg 2020 Oct;82S:163-168. Epub 2020 Mar 31 doi: 10.1016/j.ijsu.2020.03.017. PMID: 32244002
Witteles RM, Bokhari S, Damy T, Elliott PM, Falk RH, Fine NM, Gospodinova M, Obici L, Rapezzi C, Garcia-Pavia P
JACC Heart Fail 2019 Aug;7(8):709-716. Epub 2019 Jul 10 doi: 10.1016/j.jchf.2019.04.010. PMID: 31302046

Prognosis

Vaishnav J, Brown E, Sharma K
Prog Cardiovasc Dis 2024 Jan-Feb;82:113-124. Epub 2024 Jan 20 doi: 10.1016/j.pcad.2024.01.013. PMID: 38246305
Plantone D, Primiano G, Righi D, Romano A, Luigetti M, De Stefano N
Cells 2023 Sep 29;12(19) doi: 10.3390/cells12192383. PMID: 37830598Free PMC Article
Witteles RM, Bokhari S, Damy T, Elliott PM, Falk RH, Fine NM, Gospodinova M, Obici L, Rapezzi C, Garcia-Pavia P
JACC Heart Fail 2019 Aug;7(8):709-716. Epub 2019 Jul 10 doi: 10.1016/j.jchf.2019.04.010. PMID: 31302046
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
Sayed RH, Hawkins PN, Lachmann HJ
Kidney Int 2015 Mar;87(3):516-26. Epub 2014 Dec 3 doi: 10.1038/ki.2014.368. PMID: 25469850

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
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
Fontana M, Martinez-Naharro A, Chacko L, Rowczenio D, Gilbertson JA, Whelan CJ, Strehina S, Lane T, Moon J, Hutt DF, Kellman P, Petrie A, Hawkins PN, Gillmore JD
JACC Cardiovasc Imaging 2021 Jan;14(1):189-199. Epub 2020 Oct 28 doi: 10.1016/j.jcmg.2020.07.043. PMID: 33129740
Dorbala S, Cuddy S, Falk RH
JACC Cardiovasc Imaging 2020 Jun;13(6):1368-1383. Epub 2019 Oct 11 doi: 10.1016/j.jcmg.2019.07.015. PMID: 31607664Free PMC Article
Zhang X, Goel V, Attarwala H, Sweetser MT, Clausen VA, Robbie GJ
J Clin Pharmacol 2020 Jan;60(1):37-49. Epub 2019 Jul 19 doi: 10.1002/jcph.1480. PMID: 31322739Free PMC Article

Recent systematic reviews

Nativi-Nicolau J, Yilmaz A, Dasgupta N, Macey R, Cochrane J, Peatman J, Summers C, Luth J, Zolty R
J Comp Eff Res 2024 Jul;13(7):e230158. Epub 2024 Jun 13 doi: 10.57264/cer-2023-0158. PMID: 38869839Free PMC Article
Wang J, Chen D, Dong F, Chi H
Int J Surg Pathol 2024 Apr;32(2):286-293. Epub 2023 Jun 6 doi: 10.1177/10668969231177603. PMID: 37282575
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
Chandrashekar P, Alhuneafat L, Mannello M, Al-Rashdan L, Kim MM, Dungu J, Alexander K, Masri A
Circ Genom Precis Med 2021 Oct;14(5):e003356. Epub 2021 Aug 31 doi: 10.1161/CIRCGEN.121.003356. PMID: 34461737Free PMC Article
Penalver J, Ambrosino M, Jeon HD, Agrawal A, Kanjanahattakij N, Pitteloud M, Stempel J, Amanullah A
Curr Cardiol Rev 2020;16(3):221-230. doi: 10.2174/1573403X15666190722154152. PMID: 31544701Free PMC Article

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