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Amyloidosis, hereditary systemic

MedGen UID:
888981
Concept ID:
C4081731
Disease or Syndrome
Synonym: Hereditary systemic amyloidosis
SNOMED CT: Hereditary systemic amyloidosis (107311000119104)
 
Related genes: TTR, LYZ, GSN, FGA, B2M, APOA1
 
OMIM® Phenotypic series: PS105210

Professional guidelines

PubMed

Esplin BL, Gertz MA
Curr Probl Cardiol 2013 Feb;38(2):53-96. doi: 10.1016/j.cpcardiol.2012.11.002. PMID: 23337445

Recent clinical studies

Etiology

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
Picken MM
Acta Haematol 2020;143(4):322-334. Epub 2020 May 11 doi: 10.1159/000506696. PMID: 32392555
Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, Planté-Bordeneuve V, Barroso FA, Merlini G, Obici L, Scheinberg M, Brannagan TH 3rd, Litchy WJ, Whelan C, Drachman BM, Adams D, Heitner SB, Conceição I, Schmidt HH, Vita G, Campistol JM, Gamez J, Gorevic PD, Gane E, Shah AM, Solomon SD, Monia BP, Hughes SG, Kwoh TJ, McEvoy BW, Jung SW, Baker BF, Ackermann EJ, Gertz MA, Coelho T
N Engl J Med 2018 Jul 5;379(1):22-31. doi: 10.1056/NEJMoa1716793. PMID: 29972757
Weidner T, Illing T, Elsner P
Am J Clin Dermatol 2017 Oct;18(5):629-642. doi: 10.1007/s40257-017-0278-9. PMID: 28342017
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

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
Zhang Y, Feng L
J Cutan Med Surg 2022 Sep-Oct;26(5):541. Epub 2021 Dec 8 doi: 10.1177/12034754211064314. PMID: 34878924
Muchtar E, Dispenzieri A, Magen H, Grogan M, Mauermann M, McPhail ED, Kurtin PJ, Leung N, Buadi FK, Dingli D, Kumar SK, Gertz MA
J Intern Med 2021 Mar;289(3):268-292. Epub 2020 Sep 14 doi: 10.1111/joim.13169. PMID: 32929754
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
Picken MM
Acta Haematol 2020;143(4):322-334. Epub 2020 May 11 doi: 10.1159/000506696. PMID: 32392555

Therapy

Feitosa VA, Neves PDMM, Jorge LB, Noronha IL, Onuchic LF
Braz J Med Biol Res 2022;55:e12284. Epub 2022 Oct 3 doi: 10.1590/1414-431X2022e12284. PMID: 36197414Free PMC Article
Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, Planté-Bordeneuve V, Barroso FA, Merlini G, Obici L, Scheinberg M, Brannagan TH 3rd, Litchy WJ, Whelan C, Drachman BM, Adams D, Heitner SB, Conceição I, Schmidt HH, Vita G, Campistol JM, Gamez J, Gorevic PD, Gane E, Shah AM, Solomon SD, Monia BP, Hughes SG, Kwoh TJ, McEvoy BW, Jung SW, Baker BF, Ackermann EJ, Gertz MA, Coelho T
N Engl J Med 2018 Jul 5;379(1):22-31. doi: 10.1056/NEJMoa1716793. PMID: 29972757
Lachmann HJ
Best Pract Res Clin Rheumatol 2017 Aug;31(4):596-609. Epub 2018 Jan 11 doi: 10.1016/j.berh.2017.12.001. PMID: 29773275
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
Weidner T, Illing T, Elsner P
Am J Clin Dermatol 2017 Oct;18(5):629-642. doi: 10.1007/s40257-017-0278-9. PMID: 28342017

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
Feitosa VA, Neves PDMM, Jorge LB, Noronha IL, Onuchic LF
Braz J Med Biol Res 2022;55:e12284. Epub 2022 Oct 3 doi: 10.1590/1414-431X2022e12284. PMID: 36197414Free PMC Article
Carroll A, Dyck PJ, de Carvalho M, Kennerson M, Reilly MM, Kiernan MC, Vucic S
J Neurol Neurosurg Psychiatry 2022 Jun;93(6):668-678. Epub 2022 Mar 7 doi: 10.1136/jnnp-2021-327909. PMID: 35256455Free PMC Article
Muchtar E, Dispenzieri A, Magen H, Grogan M, Mauermann M, McPhail ED, Kurtin PJ, Leung N, Buadi FK, Dingli D, Kumar SK, Gertz MA
J Intern Med 2021 Mar;289(3):268-292. Epub 2020 Sep 14 doi: 10.1111/joim.13169. PMID: 32929754
Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, Planté-Bordeneuve V, Barroso FA, Merlini G, Obici L, Scheinberg M, Brannagan TH 3rd, Litchy WJ, Whelan C, Drachman BM, Adams D, Heitner SB, Conceição I, Schmidt HH, Vita G, Campistol JM, Gamez J, Gorevic PD, Gane E, Shah AM, Solomon SD, Monia BP, Hughes SG, Kwoh TJ, McEvoy BW, Jung SW, Baker BF, Ackermann EJ, Gertz MA, Coelho T
N Engl J Med 2018 Jul 5;379(1):22-31. doi: 10.1056/NEJMoa1716793. PMID: 29972757

Clinical prediction guides

Muchtar E, Dispenzieri A, Magen H, Grogan M, Mauermann M, McPhail ED, Kurtin PJ, Leung N, Buadi FK, Dingli D, Kumar SK, Gertz MA
J Intern Med 2021 Mar;289(3):268-292. Epub 2020 Sep 14 doi: 10.1111/joim.13169. PMID: 32929754
Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, Planté-Bordeneuve V, Barroso FA, Merlini G, Obici L, Scheinberg M, Brannagan TH 3rd, Litchy WJ, Whelan C, Drachman BM, Adams D, Heitner SB, Conceição I, Schmidt HH, Vita G, Campistol JM, Gamez J, Gorevic PD, Gane E, Shah AM, Solomon SD, Monia BP, Hughes SG, Kwoh TJ, McEvoy BW, Jung SW, Baker BF, Ackermann EJ, Gertz MA, Coelho T
N Engl J Med 2018 Jul 5;379(1):22-31. doi: 10.1056/NEJMoa1716793. PMID: 29972757
Siddiqi OK, Ruberg FL
Trends Cardiovasc Med 2018 Jan;28(1):10-21. Epub 2017 Jul 13 doi: 10.1016/j.tcm.2017.07.004. PMID: 28739313Free PMC Article
Grogan M, Scott CG, Kyle RA, Zeldenrust SR, Gertz MA, Lin G, Klarich KW, Miller WL, Maleszewski JJ, Dispenzieri A
J Am Coll Cardiol 2016 Sep 6;68(10):1014-20. doi: 10.1016/j.jacc.2016.06.033. PMID: 27585505
Coelho T, Maurer MS, Suhr OB
Curr Med Res Opin 2013 Jan;29(1):63-76. Epub 2012 Dec 13 doi: 10.1185/03007995.2012.754348. PMID: 23193944

Recent systematic reviews

Khan LA, Shaikh FH, Khan MS, Zafar B, Farooqi M, Bold B, Aslam HM, Essam N, Noor I, Siddique A, Shakil S, Keen MA
Curr Probl Cardiol 2024 Dec;49(12):102860. Epub 2024 Sep 19 doi: 10.1016/j.cpcardiol.2024.102860. PMID: 39306149
Berends M, Nienhuis HLA, Adams D, Karam C, Luigetti M, Polydefkis M, Reilly MM, Sekijima Y, Hazenberg BPC
Int J Mol Sci 2024 Mar 28;25(7) doi: 10.3390/ijms25073770. PMID: 38612579Free PMC Article
Dohrn MF, Ihne S, Hegenbart U, Medina J, Züchner SL, Coelho T, Hahn K
J Neurochem 2021 Mar;156(6):802-818. Epub 2020 Dec 3 doi: 10.1111/jnc.15233. PMID: 33155274
Weidner T, Illing T, Elsner P
Am J Clin Dermatol 2017 Oct;18(5):629-642. doi: 10.1007/s40257-017-0278-9. PMID: 28342017
ter Haar NM, Oswald M, Jeyaratnam J, Anton J, Barron KS, Brogan PA, Cantarini L, Galeotti C, Grateau G, Hentgen V, Hofer M, Kallinich T, Kone-Paut I, Lachmann HJ, Ozdogan H, Ozen S, Russo R, Simon A, Uziel Y, Wouters C, Feldman BM, Vastert SJ, Wulffraat NM, Benseler SM, Frenkel J, Gattorno M, Kuemmerle-Deschner JB
Ann Rheum Dis 2015 Sep;74(9):1636-44. Epub 2015 Jun 24 doi: 10.1136/annrheumdis-2015-207546. PMID: 26109736

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