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Amyloidosis hereditary

MedGen UID:
148146
Concept ID:
C0740340
Disease or Syndrome
Synonyms: Familial amyloidosis
SNOMED CT: Hereditary amyloidosis (367601000119103)
 
Orphanet: ORPHA444116

Definition

An autosomal dominant inherited form of amyloidosis. [from NCI]

Recent clinical studies

Etiology

Wiklund U, Kadkhodaee A, Andersson K, Suhr OB, Hörnsten R
Amyloid 2018 Mar;25(1):54-61. Epub 2018 Feb 2 doi: 10.1080/13506129.2018.1434140. PMID: 29394116
Di Carli MF, Geva T, Davidoff R
Circulation 2016 Jun 21;133(25):2640-61. doi: 10.1161/CIRCULATIONAHA.116.023511. PMID: 27324360
Pilebro B, Suhr OB, Näslund U, Westermark P, Lindqvist P, Sundström T
Ups J Med Sci 2016;121(1):17-24. Epub 2016 Feb 5 doi: 10.3109/03009734.2015.1122687. PMID: 26849806Free PMC Article
Hellman U, Lundgren HE, Westermark P, Stafberg C, Nahi H, Tachlinski S, Guggi M, Flogegård M, Hamid M, Escher SA, Suhr OB
Eur J Med Genet 2015 Apr;58(4):211-5. Epub 2015 Feb 24 doi: 10.1016/j.ejmg.2015.02.005. PMID: 25721874
Quarta CC, Solomon SD, Uraizee I, Kruger J, Longhi S, Ferlito M, Gagliardi C, Milandri A, Rapezzi C, Falk RH
Circulation 2014 May 6;129(18):1840-9. Epub 2014 Feb 21 doi: 10.1161/CIRCULATIONAHA.113.006242. PMID: 24563469

Diagnosis

Yuan Z, Guo L, Liu X, Xiao X, Jiao B, Wang J, Yan X, Tang B, Shen L
J Clin Neurosci 2019 Feb;60:164-166. Epub 2018 Oct 22 doi: 10.1016/j.jocn.2018.10.040. PMID: 30361054
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
Hirakawa K, Takashio S, Marume K, Yamamoto M, Hanatani S, Yamamoto E, Sakamoto K, Izumiya Y, Kaikita K, Oda S, Utsunomiya D, Shiraishi S, Ueda M, Yamashita T, Yamashita Y, Ando Y, Tsujita K
ESC Heart Fail 2019 Feb;6(1):122-130. Epub 2018 Oct 4 doi: 10.1002/ehf2.12361. PMID: 30284755Free PMC Article
Di Carli MF, Geva T, Davidoff R
Circulation 2016 Jun 21;133(25):2640-61. doi: 10.1161/CIRCULATIONAHA.116.023511. PMID: 27324360
Pilebro B, Suhr OB, Näslund U, Westermark P, Lindqvist P, Sundström T
Ups J Med Sci 2016;121(1):17-24. Epub 2016 Feb 5 doi: 10.3109/03009734.2015.1122687. PMID: 26849806Free PMC Article

Therapy

Yang J
Expert Rev Clin Pharmacol 2019 Feb;12(2):95-99. Epub 2019 Jan 18 doi: 10.1080/17512433.2019.1567326. PMID: 30644768
Mickle K, Lasser KE, Hoch JS, Cipriano LE, Dreitlein WB, Pearson SD
J Manag Care Spec Pharm 2019 Jan;25(1):10-15. doi: 10.18553/jmcp.2019.25.1.010. PMID: 30589627
Planté-Bordeneuve V, Lin H, Gollob J, Agarwal S, Betts M, Fahrbach K, Chitnis M, Polydefkis M
Expert Opin Pharmacother 2019 Mar;20(4):473-481. Epub 2018 Dec 12 doi: 10.1080/14656566.2018.1554648. PMID: 30489166
Vollmar J, Schmid JC, Hoppe-Lotichius M, Barreiros AP, Azizi M, Emrich T, Geber C, Schad A, Weyer V, Otto G, Heise M, Mittler J, Birklein F, Lang H, Galle PR, Zimmermann T
Transpl Int 2018 Nov;31(11):1207-1215. Epub 2018 Aug 28 doi: 10.1111/tri.13326. PMID: 30091268
Wiklund U, Kadkhodaee A, Andersson K, Suhr OB, Hörnsten R
Amyloid 2018 Mar;25(1):54-61. Epub 2018 Feb 2 doi: 10.1080/13506129.2018.1434140. PMID: 29394116

Prognosis

Shintani Y, Okada A, Morita Y, Hamatani Y, Amano M, Takahama H, Amaki M, Hasegawa T, Ohta-Ogo K, Kanzaki H, Ishibashi-Ueda H, Yasuda S, Shimazaki C, Yoshinaga T, Yazaki M, Sekijima Y, Izumi C
ESC Heart Fail 2019 Feb;6(1):232-236. Epub 2018 Nov 27 doi: 10.1002/ehf2.12382. PMID: 30478886Free PMC Article
Hirakawa K, Takashio S, Marume K, Yamamoto M, Hanatani S, Yamamoto E, Sakamoto K, Izumiya Y, Kaikita K, Oda S, Utsunomiya D, Shiraishi S, Ueda M, Yamashita T, Yamashita Y, Ando Y, Tsujita K
ESC Heart Fail 2019 Feb;6(1):122-130. Epub 2018 Oct 4 doi: 10.1002/ehf2.12361. PMID: 30284755Free PMC Article
Gagliardi C, Perfetto F, Lorenzini M, Ferlini A, Salvi F, Milandri A, Quarta CC, Taborchi G, Bartolini S, Frusconi S, Martone R, Cinelli MM, Foffi S, Reggiani MLB, Fabbri G, Cataldo P, Cappelli F, Rapezzi C
Eur J Heart Fail 2018 Oct;20(10):1417-1425. Epub 2018 Aug 2 doi: 10.1002/ejhf.1285. PMID: 30070416
Di Carli MF, Geva T, Davidoff R
Circulation 2016 Jun 21;133(25):2640-61. doi: 10.1161/CIRCULATIONAHA.116.023511. PMID: 27324360
Quarta CC, Solomon SD, Uraizee I, Kruger J, Longhi S, Ferlito M, Gagliardi C, Milandri A, Rapezzi C, Falk RH
Circulation 2014 May 6;129(18):1840-9. Epub 2014 Feb 21 doi: 10.1161/CIRCULATIONAHA.113.006242. PMID: 24563469

Clinical prediction guides

Planté-Bordeneuve V, Lin H, Gollob J, Agarwal S, Betts M, Fahrbach K, Chitnis M, Polydefkis M
Expert Opin Pharmacother 2019 Mar;20(4):473-481. Epub 2018 Dec 12 doi: 10.1080/14656566.2018.1554648. PMID: 30489166
Hirakawa K, Takashio S, Marume K, Yamamoto M, Hanatani S, Yamamoto E, Sakamoto K, Izumiya Y, Kaikita K, Oda S, Utsunomiya D, Shiraishi S, Ueda M, Yamashita T, Yamashita Y, Ando Y, Tsujita K
ESC Heart Fail 2019 Feb;6(1):122-130. Epub 2018 Oct 4 doi: 10.1002/ehf2.12361. PMID: 30284755Free PMC Article
Wiklund U, Kadkhodaee A, Andersson K, Suhr OB, Hörnsten R
Amyloid 2018 Mar;25(1):54-61. Epub 2018 Feb 2 doi: 10.1080/13506129.2018.1434140. PMID: 29394116
Di Carli MF, Geva T, Davidoff R
Circulation 2016 Jun 21;133(25):2640-61. doi: 10.1161/CIRCULATIONAHA.116.023511. PMID: 27324360
Quarta CC, Solomon SD, Uraizee I, Kruger J, Longhi S, Ferlito M, Gagliardi C, Milandri A, Rapezzi C, Falk RH
Circulation 2014 May 6;129(18):1840-9. Epub 2014 Feb 21 doi: 10.1161/CIRCULATIONAHA.113.006242. PMID: 24563469

Recent systematic reviews

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
Mints YY, Doros G, Berk JL, Connors LH, Ruberg FL
ESC Heart Fail 2018 Oct;5(5):772-779. Epub 2018 Jun 19 doi: 10.1002/ehf2.12308. PMID: 29916559Free PMC Article
Treglia G, Glaudemans AWJM, Bertagna F, Hazenberg BPC, Erba PA, Giubbini R, Ceriani L, Prior JO, Giovanella L, Slart RHJA
Eur J Nucl Med Mol Imaging 2018 Oct;45(11):1945-1955. Epub 2018 Apr 23 doi: 10.1007/s00259-018-4013-4. PMID: 29687207

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