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Hereditary amyloidosis

MedGen UID:
148146
Concept ID:
C0740340
Disease or Syndrome
Synonym: Familial amyloidosis
SNOMED CT: Hereditary amyloidosis (367601000119103)
 
Monarch Initiative: MONDO:0018634
Orphanet: ORPHA444116

Definition

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

Professional guidelines

PubMed

Kapoor M, Rossor AM, Laura M, Reilly MM
J Neuromuscul Dis 2019;6(2):189-199. doi: 10.3233/JND-180371. PMID: 30829617Free PMC Article
González-Duarte A, Cárdenas-Soto K, Bañuelos CE, Fueyo O, Dominguez C, Torres B, Cantú-Brito C
Orphanet J Rare Dis 2018 Jul 3;13(1):107. doi: 10.1186/s13023-018-0801-y. PMID: 29970125Free PMC Article
Coelho T
Curr Opin Neurol 1996 Oct;9(5):355-9. PMID: 8894411

Recent clinical studies

Etiology

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
Gupta N, Kaur H, Wajid S
Protoplasma 2020 Sep;257(5):1259-1276. Epub 2020 May 24 doi: 10.1007/s00709-020-01513-0. PMID: 32447467
Mankad AK, Shah KB
Curr Cardiol Rep 2017 Aug 24;19(10):97. doi: 10.1007/s11886-017-0911-5. PMID: 28840452
Ando Y, Coelho T, Berk JL, Cruz MW, Ericzon BG, Ikeda S, Lewis WD, Obici L, Planté-Bordeneuve V, Rapezzi C, Said G, Salvi F
Orphanet J Rare Dis 2013 Feb 20;8:31. doi: 10.1186/1750-1172-8-31. PMID: 23425518Free PMC Article
Sen-Chowdhry S, Syrris P, McKenna WJ
Heart Fail Clin 2010 Apr;6(2):179-86. doi: 10.1016/j.hfc.2009.11.005. PMID: 20347786

Diagnosis

Khella SL
Am J Cardiol 2022 Dec;185 Suppl 1:S17-S22. Epub 2022 Nov 8 doi: 10.1016/j.amjcard.2022.10.007. PMID: 36369035
Brunet de Courssou JB, Durr A, Adams D, Corvol JC, Mariani LL
Brain 2022 Apr 29;145(3):816-831. doi: 10.1093/brain/awab423. PMID: 35286370
Gupta N, Kaur H, Wajid S
Protoplasma 2020 Sep;257(5):1259-1276. Epub 2020 May 24 doi: 10.1007/s00709-020-01513-0. PMID: 32447467
Kaku M, Berk JL
Semin Neurol 2019 Oct;39(5):578-588. Epub 2019 Oct 22 doi: 10.1055/s-0039-1688994. PMID: 31639841
Ando Y, Nakamura M, Araki S
Arch Neurol 2005 Jul;62(7):1057-62. doi: 10.1001/archneur.62.7.1057. PMID: 16009758

Therapy

Patterson J
Drug Ther Bull 2023 May;61(5):72-76. Epub 2023 Apr 25 doi: 10.1136/dtb.2023.000004. PMID: 37098440
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
Brunet de Courssou JB, Durr A, Adams D, Corvol JC, Mariani LL
Brain 2022 Apr 29;145(3):816-831. doi: 10.1093/brain/awab423. PMID: 35286370
Sekijima Y
J Neurol Neurosurg Psychiatry 2015 Sep;86(9):1036-43. Epub 2015 Jan 20 doi: 10.1136/jnnp-2014-308724. PMID: 25604431
Walls TJ
Curr Opin Neurol Neurosurg 1992 Jun;5(3):375-8. PMID: 1320436

Prognosis

Khella SL
Am J Cardiol 2022 Dec;185 Suppl 1:S17-S22. Epub 2022 Nov 8 doi: 10.1016/j.amjcard.2022.10.007. PMID: 36369035
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
Castro J, Miranda B, de Castro I, Conceição I
Eur J Neurol 2022 Mar;29(3):826-832. Epub 2021 Nov 17 doi: 10.1111/ene.15176. PMID: 34751997
Gupta N, Kaur H, Wajid S
Protoplasma 2020 Sep;257(5):1259-1276. Epub 2020 May 24 doi: 10.1007/s00709-020-01513-0. PMID: 32447467
Ando Y, Nakamura M, Araki S
Arch Neurol 2005 Jul;62(7):1057-62. doi: 10.1001/archneur.62.7.1057. PMID: 16009758

Clinical prediction guides

Luzuriaga Carpio DE, Abrigo Maldonado BR, Villacorta H
Med Sci (Basel) 2024 Oct 21;12(4) doi: 10.3390/medsci12040058. PMID: 39449414Free PMC Article
Conceição I, González-Duarte A, Obici L, Schmidt HH, Simoneau D, Ong ML, Amass L
J Peripher Nerv Syst 2016 Mar;21(1):5-9. doi: 10.1111/jns.12153. PMID: 26663427Free PMC Article
Del Giudice R, Arciello A, Itri F, Merlino A, Monti M, Buonanno M, Penco A, Canetti D, Petruk G, Monti SM, Relini A, Pucci P, Piccoli R, Monti DM
Biochim Biophys Acta 2016 Feb;1860(2):434-44. Epub 2015 Oct 26 doi: 10.1016/j.bbagen.2015.10.019. PMID: 26515634
Sen-Chowdhry S, Syrris P, McKenna WJ
Heart Fail Clin 2010 Apr;6(2):179-86. doi: 10.1016/j.hfc.2009.11.005. PMID: 20347786
Wallace MR, Conneally PM, Benson MD
Am J Hum Genet 1988 Aug;43(2):182-7. PMID: 2840822Free PMC Article

Recent systematic reviews

Goyal A, Lahan S, Dalia T, Ranka S, Bhattad VB, Patel RR, Shah Z
Heart Fail Rev 2022 May;27(3):849-856. Epub 2021 Mar 25 doi: 10.1007/s10741-021-10098-6. PMID: 33768376
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
Cristóbal Gutiérrez H, Pelayo-Negro AL, Gómez Gómez D, Martín Vega MÁ, Valero Domínguez M
Eur J Hosp Pharm 2020 Jul;27(4):194-201. Epub 2019 Mar 19 doi: 10.1136/ejhpharm-2018-001823. PMID: 32587078Free 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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