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Amyloidosis, hereditary systemic 5(AMYLD5)

MedGen UID:
1859086
Concept ID:
C5935572
Disease or Syndrome
Synonyms: AMYLD5; AMYLOIDOSIS, HEREDITARY SYSTEMIC 5
 
Gene (location): LYZ (12q15)
 
Monarch Initiative: MONDO:0971009
OMIM®: 620658

Definition

Hereditary systemic amyloidosis-5 (AMYLD5) is a rare amyloidosis that can affect the viscera, with severe involvement when located in the kidneys and liver. Renal dysfunction of varying severity may be the predominant manifestation. Massive hepatic hemorrhage constitutes the other severe visceral involvement. Dermatologic manifestations are rare (summary by Granel et al., 2005). The various forms of hereditary systemic amyloidosis that do not have peripheral neuropathy as part of the clinical syndrome had been referred to as 'Ostertag type' (Benson, 2005). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210). [from OMIM]

Professional guidelines

PubMed

Nakov R, Suhr OB, Ianiro G, Kupcinskas J, Segal JP, Dumitrascu DL, Heinrich H, Mikolasevic I, Stojkovic-Lalosevic M, Barbov I, Sarafov S, Tournev I, Nakov V, Wixner J
Eur J Gastroenterol Hepatol 2021 May 1;33(5):613-622. doi: 10.1097/MEG.0000000000002030. PMID: 33394808
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
Al Yahya RS
Lasers Med Sci 2016 Jul;31(5):1027-35. Epub 2016 Mar 16 doi: 10.1007/s10103-016-1917-8. PMID: 26984345

Recent clinical studies

Etiology

Goldis R, Kaplan B, Kukuy OL, Arad M, Magen H, Shavit-Stein E, Dori A, Livneh A
Int J Mol Sci 2023 Feb 28;24(5) doi: 10.3390/ijms24054655. PMID: 36902083Free PMC Article
Solís Marquínez MN, García Fernández E, Morís de la Tassa J
Reumatol Clin (Engl Ed) 2019 Sep-Oct;15(5):e39-e40. Epub 2017 Jun 2 doi: 10.1016/j.reuma.2017.04.008. PMID: 28583784
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

Goldis R, Kaplan B, Kukuy OL, Arad M, Magen H, Shavit-Stein E, Dori A, Livneh A
Int J Mol Sci 2023 Feb 28;24(5) doi: 10.3390/ijms24054655. PMID: 36902083Free 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
Kaku M, Berk JL
Semin Neurol 2019 Oct;39(5):578-588. Epub 2019 Oct 22 doi: 10.1055/s-0039-1688994. PMID: 31639841
Kuseyri O, Haas D, Lang N, Schäkel K, Bettendorf M
Pediatrics 2017 May;139(5) doi: 10.1542/peds.2016-0170. PMID: 28557715
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

Therapy

Solís Marquínez MN, García Fernández E, Morís de la Tassa J
Reumatol Clin (Engl Ed) 2019 Sep-Oct;15(5):e39-e40. Epub 2017 Jun 2 doi: 10.1016/j.reuma.2017.04.008. PMID: 28583784
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
De Benedetti F, Gattorno M, Anton J, Ben-Chetrit E, Frenkel J, Hoffman HM, Koné-Paut I, Lachmann HJ, Ozen S, Simon A, Zeft A, Calvo Penades I, Moutschen M, Quartier P, Kasapcopur O, Shcherbina A, Hofer M, Hashkes PJ, Van der Hilst J, Hara R, Bujan-Rivas S, Constantin T, Gul A, Livneh A, Brogan P, Cattalini M, Obici L, Lheritier K, Speziale A, Junge G
N Engl J Med 2018 May 17;378(20):1908-1919. doi: 10.1056/NEJMoa1706314. PMID: 29768139
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
Rocha A, Lobato L
Transplant Rev (Orlando) 2017 Apr;31(2):115-120. Epub 2016 Sep 14 doi: 10.1016/j.trre.2016.09.002. PMID: 27671053

Prognosis

Goldis R, Kaplan B, Kukuy OL, Arad M, Magen H, Shavit-Stein E, Dori A, Livneh A
Int J Mol Sci 2023 Feb 28;24(5) doi: 10.3390/ijms24054655. PMID: 36902083Free PMC Article
Lioncino M, Monda E, Palmiero G, Caiazza M, Vetrano E, Rubino M, Esposito A, Salerno G, Dongiglio F, D'Onofrio B, Verrillo F, Cerciello G, Manganelli F, Pacileo G, Bossone E, Golino P, Calabrò P, Limongelli G
Heart Fail Clin 2022 Jan;18(1):73-87. Epub 2021 Oct 25 doi: 10.1016/j.hfc.2021.07.006. PMID: 34776085
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
Nuvolone M, Merlini G
Nephrol Dial Transplant 2017 May 1;32(5):770-780. doi: 10.1093/ndt/gfw305. PMID: 27540044
Casini A, de Moerloose P
Haemophilia 2016 Sep;22(5):667-75. Epub 2016 Jun 13 doi: 10.1111/hae.12967. PMID: 27293018

Clinical prediction guides

Neculae G, Adam R, Jercan A, Bădeliță S, Tjahjadi C, Draghici M, Stan C, Bax JJ, Popescu BA, Marsan NA, Coriu D, Jurcuț R
ESC Heart Fail 2024 Oct;11(5):2825-2834. Epub 2024 May 16 doi: 10.1002/ehf2.14852. PMID: 38757395Free PMC Article
Caponetti AG, Sguazzotti M, Accietto A, Saturi G, Ponziani A, Giovannetti A, Massa P, Ruotolo I, Sena G, Zaccaro A, Parisi V, Bonfiglioli R, Guaraldi P, Gagliardi C, Cortelli P, Galie N, Biagini E, Longhi S
Eur J Prev Cardiol 2024 May 11;31(7):866-876. doi: 10.1093/eurjpc/zwae011. PMID: 38204330
Cheong EN, Paik W, Choi YC, Lim YM, Kim H, Shim WH, Park HJ
Yonsei Med J 2021 May;62(5):431-438. doi: 10.3349/ymj.2021.62.5.431. PMID: 33908214Free 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
Venkatesh P, Selvan H, Singh SB, Gupta D, Kashyap S, Temkar S, Gogia V, Tripathy K, Chawla R, Vohra R
Ophthalmology 2017 Jul;124(7):1014-1022. Epub 2017 Apr 12 doi: 10.1016/j.ophtha.2017.03.011. PMID: 28412068

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
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
Kaltoft B, Schmidt G, Lauritzen AF, Gimsing P
Dan Med J 2013 Nov;60(11):A4727. PMID: 24192243

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