U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Familial amyloid polyneuropathy, Iowa type(AMYLD3)

MedGen UID:
1635231
•Concept ID:
C4551500
•
Disease or Syndrome
Synonyms: AMYLD3; Amyloid polyneuropathy-nephropathy, Iowa type; AMYLOIDOSIS, HEREDITARY SYSTEMIC 3; AMYLOIDOSIS, IOWA TYPE; AMYLOIDOSIS, TYPE III; AMYLOIDOSIS, TYPE IV; AMYLOIDOSIS, VAN ALLEN TYPE; Familial amyloid polyneuropathy type III
SNOMED CT: Familial amyloid polyneuropathy type III (9133005); Van Allen type amyloid polyneuropathy (9133005); Iowa type amyloid polyneuropathy (9133005); Familial amyloid polyneuropathy, Iowa type (9133005); Iowa type amyloidosis (9133005); van Allen type amyloidosis (9133005)
 
Gene (location): APOA1 (11q23.3)
 
Monarch Initiative: MONDO:0971008
OMIM®: 620657

Definition

Hereditary amyloidosis is an autosomal dominant disorder in which amyloid deposition occurs in various tissues. Hereditary systemic amyloidosis-3 (AMYLD3) is characterized by a wide clinical spectrum including amyloid neuropathy, nephropathy, hepatopathy, and cardiomyopathy. Amyloid deposition can also occur in skin, larynx (resulting in hoarseness), and testis (resulting in infertility) (summary by Hamidi Asl et al., 1999, Lachmann et al., 2002). For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210). [from OMIM]

Term Hierarchy

Professional guidelines

PubMed

Cardiac Amyloidosis Treatment.
Stern LK, Patel J
Methodist Debakey Cardiovasc J 2022;18(2):59-72. Epub 2022 Mar 14 doi: 10.14797/mdcvj.1050. PMID: 35414852Free 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
Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis.
Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, Grogan M, Kristen AV, Lousada I, Nativi-Nicolau J, Cristina Quarta C, Rapezzi C, Ruberg FL, Witteles R, Merlini G
Circ Heart Fail 2019 Sep;12(9):e006075. Epub 2019 Sep 4 doi: 10.1161/CIRCHEARTFAILURE.119.006075. PMID: 31480867Free PMC Article

Recent clinical studies

Etiology

Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
Coelho T, Marques W Jr, Dasgupta NR, Chao CC, Parman Y, França MC Jr, Guo YC, Wixner J, Ro LS, Calandra CR, Kowacs PA, Berk JL, Obici L, Barroso FA, Weiler M, Conceição I, Jung SW, Buchele G, Brambatti M, Chen J, Hughes SG, Schneider E, Viney NJ, Masri A, Gertz MR, Ando Y, Gillmore JD, Khella S, Dyck PJB, Waddington Cruz M; NEURO-TTRansform Investigators
JAMA 2023 Oct 17;330(15):1448-1458. doi: 10.1001/jama.2023.18688. PMID: 37768671Free PMC Article
Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial.
Adams D, Tournev IL, Taylor MS, Coelho T, Planté-Bordeneuve V, Berk JL, González-Duarte A, Gillmore JD, Low SC, Sekijima Y, Obici L, Chen C, Badri P, Arum SM, Vest J, Polydefkis M; HELIOS-A Collaborators
Amyloid 2023 Mar;30(1):1-9. Epub 2022 Jul 23 doi: 10.1080/13506129.2022.2091985. PMID: 35875890
Hereditary transthyretin amyloidosis overview.
Manganelli F, Fabrizi GM, Luigetti M, Mandich P, Mazzeo A, Pareyson D
Neurol Sci 2022 Dec;43(Suppl 2):595-604. Epub 2020 Nov 14 doi: 10.1007/s10072-020-04889-2. PMID: 33188616Free PMC Article
Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice.
Witteles RM, Bokhari S, Damy T, Elliott PM, Falk RH, Fine NM, Gospodinova M, Obici L, Rapezzi C, Garcia-Pavia P
JACC Heart Fail 2019 Aug;7(8):709-716. Epub 2019 Jul 10 doi: 10.1016/j.jchf.2019.04.010. PMID: 31302046
Familial amyloid polyneuropathy.
Planté-Bordeneuve V, Said G
Lancet Neurol 2011 Dec;10(12):1086-97. doi: 10.1016/S1474-4422(11)70246-0. PMID: 22094129

Diagnosis

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).
Brito D, Albrecht FC, de Arenaza DP, Bart N, Better N, Carvajal-Juarez I, Conceição I, Damy T, Dorbala S, Fidalgo JC, Garcia-Pavia P, Ge J, Gillmore JD, Grzybowski J, Obici L, Piñero D, Rapezzi C, Ueda M, Pinto FJ
Glob Heart 2023;18(1):59. Epub 2023 Oct 26 doi: 10.5334/gh.1262. PMID: 37901600Free PMC Article
Hereditary transthyretin amyloidosis overview.
Manganelli F, Fabrizi GM, Luigetti M, Mandich P, Mazzeo A, Pareyson D
Neurol Sci 2022 Dec;43(Suppl 2):595-604. Epub 2020 Nov 14 doi: 10.1007/s10072-020-04889-2. PMID: 33188616Free PMC Article
Transthyretin amyloid cardiomyopathy.
Garcia-Pavia P, Domínguez F, Gonzalez-Lopez E
Med Clin (Barc) 2021 Feb 12;156(3):126-134. Epub 2020 Oct 31 doi: 10.1016/j.medcli.2020.06.064. PMID: 33138983
Cardiac amyloidosis: An update on diagnosis and treatment.
Donnelly JP, Hanna M
Cleve Clin J Med 2017 Dec;84(12 Suppl 3):12-26. doi: 10.3949/ccjm.84.s3.02. PMID: 29257735
Familial amyloid polyneuropathy.
Planté-Bordeneuve V, Said G
Lancet Neurol 2011 Dec;10(12):1086-97. doi: 10.1016/S1474-4422(11)70246-0. PMID: 22094129

Therapy

Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
Coelho T, Marques W Jr, Dasgupta NR, Chao CC, Parman Y, França MC Jr, Guo YC, Wixner J, Ro LS, Calandra CR, Kowacs PA, Berk JL, Obici L, Barroso FA, Weiler M, Conceição I, Jung SW, Buchele G, Brambatti M, Chen J, Hughes SG, Schneider E, Viney NJ, Masri A, Gertz MR, Ando Y, Gillmore JD, Khella S, Dyck PJB, Waddington Cruz M; NEURO-TTRansform Investigators
JAMA 2023 Oct 17;330(15):1448-1458. doi: 10.1001/jama.2023.18688. PMID: 37768671Free PMC Article
Autonomic neuropathies.
Kaur D, Tiwana H, Stino A, Sandroni P
Muscle Nerve 2021 Jan;63(1):10-21. Epub 2020 Sep 14 doi: 10.1002/mus.27048. PMID: 32926436
Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice.
Witteles RM, Bokhari S, Damy T, Elliott PM, Falk RH, Fine NM, Gospodinova M, Obici L, Rapezzi C, Garcia-Pavia P
JACC Heart Fail 2019 Aug;7(8):709-716. Epub 2019 Jul 10 doi: 10.1016/j.jchf.2019.04.010. PMID: 31302046
Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy.
Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, Kristen AV, Grogan M, Witteles R, Damy T, Drachman BM, Shah SJ, Hanna M, Judge DP, Barsdorf AI, Huber P, Patterson TA, Riley S, Schumacher J, Stewart M, Sultan MB, Rapezzi C; ATTR-ACT Study Investigators
N Engl J Med 2018 Sep 13;379(11):1007-1016. Epub 2018 Aug 27 doi: 10.1056/NEJMoa1805689. PMID: 30145929
Lipid Nanoparticle Systems for Enabling Gene Therapies.
Cullis PR, Hope MJ
Mol Ther 2017 Jul 5;25(7):1467-1475. Epub 2017 Apr 13 doi: 10.1016/j.ymthe.2017.03.013. PMID: 28412170Free PMC Article

Prognosis

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).
Brito D, Albrecht FC, de Arenaza DP, Bart N, Better N, Carvajal-Juarez I, Conceição I, Damy T, Dorbala S, Fidalgo JC, Garcia-Pavia P, Ge J, Gillmore JD, Grzybowski J, Obici L, Piñero D, Rapezzi C, Ueda M, Pinto FJ
Glob Heart 2023;18(1):59. Epub 2023 Oct 26 doi: 10.5334/gh.1262. PMID: 37901600Free PMC Article
Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice.
Witteles RM, Bokhari S, Damy T, Elliott PM, Falk RH, Fine NM, Gospodinova M, Obici L, Rapezzi C, Garcia-Pavia P
JACC Heart Fail 2019 Aug;7(8):709-716. Epub 2019 Jul 10 doi: 10.1016/j.jchf.2019.04.010. PMID: 31302046
Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review.
Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS
J Am Coll Cardiol 2019 Jun 11;73(22):2872-2891. doi: 10.1016/j.jacc.2019.04.003. PMID: 31171094Free PMC Article
Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis.
Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, Wechalekar AD, Berk JL, Quarta CC, Grogan M, Lachmann HJ, Bokhari S, Castano A, Dorbala S, Johnson GB, Glaudemans AW, Rezk T, Fontana M, Palladini G, Milani P, Guidalotti PL, Flatman K, Lane T, Vonberg FW, Whelan CJ, Moon JC, Ruberg FL, Miller EJ, Hutt DF, Hazenberg BP, Rapezzi C, Hawkins PN
Circulation 2016 Jun 14;133(24):2404-12. Epub 2016 Apr 22 doi: 10.1161/CIRCULATIONAHA.116.021612. PMID: 27143678
Familial amyloid polyneuropathy.
Planté-Bordeneuve V, Said G
Lancet Neurol 2011 Dec;10(12):1086-97. doi: 10.1016/S1474-4422(11)70246-0. PMID: 22094129

Clinical prediction guides

Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
Coelho T, Marques W Jr, Dasgupta NR, Chao CC, Parman Y, França MC Jr, Guo YC, Wixner J, Ro LS, Calandra CR, Kowacs PA, Berk JL, Obici L, Barroso FA, Weiler M, Conceição I, Jung SW, Buchele G, Brambatti M, Chen J, Hughes SG, Schneider E, Viney NJ, Masri A, Gertz MR, Ando Y, Gillmore JD, Khella S, Dyck PJB, Waddington Cruz M; NEURO-TTRansform Investigators
JAMA 2023 Oct 17;330(15):1448-1458. doi: 10.1001/jama.2023.18688. PMID: 37768671Free PMC Article
Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial.
Adams D, Tournev IL, Taylor MS, Coelho T, Planté-Bordeneuve V, Berk JL, González-Duarte A, Gillmore JD, Low SC, Sekijima Y, Obici L, Chen C, Badri P, Arum SM, Vest J, Polydefkis M; HELIOS-A Collaborators
Amyloid 2023 Mar;30(1):1-9. Epub 2022 Jul 23 doi: 10.1080/13506129.2022.2091985. PMID: 35875890
How to Image Cardiac Amyloidosis: A Practical Approach.
Dorbala S, Cuddy S, Falk RH
JACC Cardiovasc Imaging 2020 Jun;13(6):1368-1383. Epub 2019 Oct 11 doi: 10.1016/j.jcmg.2019.07.015. PMID: 31607664Free PMC Article
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis.
Adams D, Gonzalez-Duarte A, O'Riordan WD, Yang CC, Ueda M, Kristen AV, Tournev I, Schmidt HH, Coelho T, Berk JL, Lin KP, Vita G, Attarian S, Planté-Bordeneuve V, Mezei MM, Campistol JM, Buades J, Brannagan TH 3rd, Kim BJ, Oh J, Parman Y, Sekijima Y, Hawkins PN, Solomon SD, Polydefkis M, Dyck PJ, Gandhi PJ, Goyal S, Chen J, Strahs AL, Nochur SV, Sweetser MT, Garg PP, Vaishnaw AK, Gollob JA, Suhr OB
N Engl J Med 2018 Jul 5;379(1):11-21. doi: 10.1056/NEJMoa1716153. PMID: 29972753
Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis.
Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, Wechalekar AD, Berk JL, Quarta CC, Grogan M, Lachmann HJ, Bokhari S, Castano A, Dorbala S, Johnson GB, Glaudemans AW, Rezk T, Fontana M, Palladini G, Milani P, Guidalotti PL, Flatman K, Lane T, Vonberg FW, Whelan CJ, Moon JC, Ruberg FL, Miller EJ, Hutt DF, Hazenberg BP, Rapezzi C, Hawkins PN
Circulation 2016 Jun 14;133(24):2404-12. Epub 2016 Apr 22 doi: 10.1161/CIRCULATIONAHA.116.021612. PMID: 27143678

Recent systematic reviews

Six-minute walk test as clinical end point in cardiomyopathy clinical trials, including ATTR-CM: a systematic literature review.
Nativi-Nicolau J, Yilmaz A, Dasgupta N, Macey R, Cochrane J, Peatman J, Summers C, Luth J, Zolty R
J Comp Eff Res 2024 Jul;13(7):e230158. Epub 2024 Jun 13 doi: 10.57264/cer-2023-0158. PMID: 38869839Free PMC Article
Prevalence and clinical outcomes of transthyretin amyloidosis: a systematic review and meta-analysis.
Antonopoulos AS, Panagiotopoulos I, Kouroutzoglou A, Koutsis G, Toskas P, Lazaros G, Toutouzas K, Tousoulis D, Tsioufis K, Vlachopoulos C
Eur J Heart Fail 2022 Sep;24(9):1677-1696. Epub 2022 Aug 2 doi: 10.1002/ejhf.2589. PMID: 35730461
Pharmacological treatment for familial amyloid polyneuropathy.
Magrinelli F, Fabrizi GM, Santoro L, Manganelli F, Zanette G, Cavallaro T, Tamburin S
Cochrane Database Syst Rev 2020 Apr 20;4(4):CD012395. doi: 10.1002/14651858.CD012395.pub2. PMID: 32311072Free PMC Article
Hereditary transthyretin-related amyloidosis.
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
Global epidemiology of transthyretin hereditary amyloid polyneuropathy: a systematic review.
Schmidt H, Cruz MW, Botteman MF, Carter JA, Chopra A, Stewart M, Hopps M, Fallet S, Amass L
Amyloid 2017 Mar;24(sup1):111-112. doi: 10.1080/13506129.2017.1292903. PMID: 28434339

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...