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Amyloidosis, hereditary systemic 6

MedGen UID:
1054886
•Concept ID:
CN377810
•
Disease or Syndrome
Synonym: amyloidosis, hereditary systemic 6
 
Monarch Initiative: MONDO:0971010
OMIM®: 620659

Definition

Hereditary systemic amyloidosis-6 (AMYLD6) is an autosomal dominant systemic amyloidosis characterized by onset in middle age of gastrointestinal and cardiac symptoms resulting from progressive amyloid deposition. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present (summary by Prokaeva et al., 2022 and Haslett et al., 2023). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210). [from OMIM]

Professional guidelines

PubMed

Diagnosis of cystic lung diseases: a position statement from the UK Cystic Lung Disease Rare Disease Collaborative Network.
Johnson SR, Shaw DE, Avoseh M, Soomro I, Pointon KS, Kokosi M, Nicholson AG, Desai SR, George PM
Thorax 2024 Mar 15;79(4):366-377. doi: 10.1136/thorax-2022-219738. PMID: 38182428
Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis.
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
Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.
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

Recent clinical studies

Etiology

Pathological spectrum of hereditary transthyretin renal amyloidosis and clinicopathologic correlation: a French observational study.
Dang J, Ferlicot S, Misrahi M, Mussini C, Kounis I, Rémy P, Samuel D, Planté-Bordeneuve V, Adams D, Funalot B, Snanoudj R, Damy T, Moktefi A, Audard V, Zaidan M
Nephrol Dial Transplant 2023 Aug 31;38(9):2019-2030. doi: 10.1093/ndt/gfad006. PMID: 36646436
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network
Ann Rheum Dis 2022 Oct;81(10):1453-1464. Epub 2022 Jul 22 doi: 10.1136/annrheumdis-2022-222629. PMID: 35868845Free PMC Article
Natural History of Wild-Type Transthyretin Cardiac Amyloidosis and Risk Stratification Using a Novel Staging System.
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
Amyloid neuropathies.
Shin SC, Robinson-Papp J
Mt Sinai J Med 2012 Nov-Dec;79(6):733-48. doi: 10.1002/msj.21352. PMID: 23239211Free PMC Article
Genetics of restrictive cardiomyopathy.
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

Diagnosis of cystic lung diseases: a position statement from the UK Cystic Lung Disease Rare Disease Collaborative Network.
Johnson SR, Shaw DE, Avoseh M, Soomro I, Pointon KS, Kokosi M, Nicholson AG, Desai SR, George PM
Thorax 2024 Mar 15;79(4):366-377. doi: 10.1136/thorax-2022-219738. PMID: 38182428
Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis.
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
Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.
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
Natural History of Wild-Type Transthyretin Cardiac Amyloidosis and Risk Stratification Using a Novel Staging System.
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
Amyloid neuropathies.
Shin SC, Robinson-Papp J
Mt Sinai J Med 2012 Nov-Dec;79(6):733-48. doi: 10.1002/msj.21352. PMID: 23239211Free PMC Article

Therapy

Emerging therapy in light-chain and acquired transthyretin-related amyloidosis: an Italian single-centre experience in heart transplantation.
Di Nora C, Sponga S, Ferrara V, Patriarca F, Fanin R, Nalli C, Lechiancole A, Vendramin I, Livi U
J Cardiovasc Med (Hagerstown) 2021 Apr 1;22(4):261-267. doi: 10.2459/JCM.0000000000001094. PMID: 33633041
The systemic autoinflammatory disorders for dermatologists. Part 2: disease examples.
Oldham J, Lachmann HJ
Clin Exp Dermatol 2020 Dec;45(8):967-973. Epub 2020 Sep 3 doi: 10.1111/ced.14251. PMID: 32882069
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
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
Liver transplantation in transthyretin amyloidosis: issues and challenges.
Carvalho A, Rocha A, Lobato L
Liver Transpl 2015 Mar;21(3):282-92. Epub 2015 Feb 2 doi: 10.1002/lt.24058. PMID: 25482846
Acne inversa (alias hidradenitis suppurativa).
Jansen I, Altmeyer P, Piewig G
J Eur Acad Dermatol Venereol 2001 Nov;15(6):532-40. doi: 10.1046/j.1468-3083.2001.00303.x. PMID: 11843212

Prognosis

Diagnosis of cystic lung diseases: a position statement from the UK Cystic Lung Disease Rare Disease Collaborative Network.
Johnson SR, Shaw DE, Avoseh M, Soomro I, Pointon KS, Kokosi M, Nicholson AG, Desai SR, George PM
Thorax 2024 Mar 15;79(4):366-377. doi: 10.1136/thorax-2022-219738. PMID: 38182428
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network
Ann Rheum Dis 2022 Oct;81(10):1453-1464. Epub 2022 Jul 22 doi: 10.1136/annrheumdis-2022-222629. PMID: 35868845Free PMC Article
Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis.
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
Natural History of Wild-Type Transthyretin Cardiac Amyloidosis and Risk Stratification Using a Novel Staging System.
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
Amyloid neuropathies.
Shin SC, Robinson-Papp J
Mt Sinai J Med 2012 Nov-Dec;79(6):733-48. doi: 10.1002/msj.21352. PMID: 23239211Free PMC Article

Clinical prediction guides

Pathological spectrum of hereditary transthyretin renal amyloidosis and clinicopathologic correlation: a French observational study.
Dang J, Ferlicot S, Misrahi M, Mussini C, Kounis I, Rémy P, Samuel D, Planté-Bordeneuve V, Adams D, Funalot B, Snanoudj R, Damy T, Moktefi A, Audard V, Zaidan M
Nephrol Dial Transplant 2023 Aug 31;38(9):2019-2030. doi: 10.1093/ndt/gfad006. PMID: 36646436
Clinical, Laboratory, and Imaging Profile in Patients with Systemic Amyloidosis in a Brazilian Cardiology Referral Center.
Fernandes F, Alencar Neto AC, Bueno BVK, Cafezeiro CRF, Rissato JH, Szor RS, Carvalho MLP, Mathias Júnior W, Lino AMM, Castelli JB, Souza EO, Ramires FJA, Hotta VT, Soares Júnior J, Tavares CAM, Krieger JE, Rochitte CE, Dabarian A, Hajjar LA, Kalil Filho R, Mady C
Arq Bras Cardiol 2022 Feb;118(2):422-432. doi: 10.36660/abc.20201003. PMID: 35262576Free PMC Article
Hearing problems in patients with hereditary gelsolin amyloidosis.
Mustonen T, Sivonen V, Atula S, Kiuru-Enari S, Sinkkonen ST
Orphanet J Rare Dis 2021 Oct 24;16(1):448. doi: 10.1186/s13023-021-02077-9. PMID: 34689817Free PMC Article
Natural History of Wild-Type Transthyretin Cardiac Amyloidosis and Risk Stratification Using a Novel Staging System.
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
Genetics of restrictive cardiomyopathy.
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

Targeting transthyretin - Mechanism-based treatment approaches and future perspectives in hereditary amyloidosis.
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
Prognostic impact of light-chain and transthyretin-related categories in cardiac amyloidosis: A systematic review and meta-analysis.
Xin Y, Hu W, Chen X, Hu J, Sun Y, Zhao Y
Hellenic J Cardiol 2019 Nov-Dec;60(6):375-383. Epub 2019 Feb 8 doi: 10.1016/j.hjc.2019.01.015. PMID: 30742933

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