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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

Gopal DM, Ruberg FL, Siddiqi OK
Curr Heart Fail Rep 2019 Oct;16(5):180-188. doi: 10.1007/s11897-019-00436-z. PMID: 31520266
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
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

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
Tan SY, Pepys MB
Histopathology 1994 Nov;25(5):403-14. doi: 10.1111/j.1365-2559.1994.tb00001.x. PMID: 7868080

Diagnosis

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
Kaku M, Berk JL
Semin Neurol 2019 Oct;39(5):578-588. Epub 2019 Oct 22 doi: 10.1055/s-0039-1688994. PMID: 31639841
Sekijima Y
J Neurol Neurosurg Psychiatry 2015 Sep;86(9):1036-43. Epub 2015 Jan 20 doi: 10.1136/jnnp-2014-308724. PMID: 25604431
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

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
Barreiros AP, Galle PR, Otto G
Dig Dis 2013;31(1):170-4. Epub 2013 Jun 17 doi: 10.1159/000347214. PMID: 23797140

Prognosis

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
Gonzalez-Duarte A
Clin Auton Res 2019 Apr;29(2):245-251. Epub 2018 Mar 6 doi: 10.1007/s10286-018-0514-2. PMID: 29511897
Desport E, Bridoux F, Sirac C, Delbes S, Bender S, Fernandez B, Quellard N, Lacombe C, Goujon JM, Lavergne D, Abraham J, Touchard G, Fermand JP, Jaccard A; Centre national de référence pour l’amylose AL et les autres maladies par dépôts d’immunoglobulines monoclonales
Orphanet J Rare Dis 2012 Aug 21;7:54. doi: 10.1186/1750-1172-7-54. PMID: 22909024Free PMC Article
Pettersson T, Konttinen YT
Semin Arthritis Rheum 2010 Apr;39(5):356-68. Epub 2008 Dec 3 doi: 10.1016/j.semarthrit.2008.09.001. PMID: 19022480

Clinical prediction guides

Clerc OF, Cuddy SAM, Robertson M, Vijayakumar S, Neri JC, Chemburkar V, Kijewski MF, Di Carli MF, Bianchi G, Falk RH, Dorbala S
JACC Cardiovasc Imaging 2023 Nov;16(11):1419-1432. Epub 2023 Sep 6 doi: 10.1016/j.jcmg.2023.07.007. PMID: 37676210Free PMC Article
Schmidt HH, Wixner J, Planté-Bordeneuve V, Muñoz-Beamud F, Lladó L, Gillmore JD, Mazzeo A, Li X, Arum S, Jay PY, Adams D; Patisiran Post-LT Study Group
Am J Transplant 2022 Jun;22(6):1646-1657. Epub 2022 Mar 26 doi: 10.1111/ajt.17009. PMID: 35213769Free PMC Article
Conceição I
Clin Auton Res 2019 Sep;29(Suppl 1):11-17. Epub 2019 Aug 9 doi: 10.1007/s10286-019-00626-8. PMID: 31399774Free PMC Article
Gonzalez-Duarte A
Clin Auton Res 2019 Apr;29(2):245-251. Epub 2018 Mar 6 doi: 10.1007/s10286-018-0514-2. PMID: 29511897
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

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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