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Hereditary ATTR amyloidosis

MedGen UID:
960513
•Concept ID:
CN277485
•
Disease or Syndrome
Synonyms: Familial transthyretin-related amyloidosis; Familial TTR-related amyloidosis
 
Orphanet: ORPHA271861

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary ATTR amyloidosis

Professional guidelines

PubMed

Amyloidosis-the Diagnosis and Treatment of an Underdiagnosed Disease.
Ihne S, Morbach C, Sommer C, Geier A, Knop S, Störk S
Dtsch Arztebl Int 2020 Mar 6;117(10):159-166. doi: 10.3238/arztebl.2020.0159. PMID: 32295695Free PMC Article
Liver transplantation in transthyretin amyloidosis: Characteristics and management related to kidney disease.
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
Preclinical evaluation of RNAi as a treatment for transthyretin-mediated amyloidosis.
Butler JS, Chan A, Costelha S, Fishman S, Willoughby JL, Borland TD, Milstein S, Foster DJ, Gonçalves P, Chen Q, Qin J, Bettencourt BR, Sah DW, Alvarez R, Rajeev KG, Manoharan M, Fitzgerald K, Meyers RE, Nochur SV, Saraiva MJ, Zimmermann TS
Amyloid 2016 Jun;23(2):109-18. Epub 2016 Mar 31 doi: 10.3109/13506129.2016.1160882. PMID: 27033334Free PMC Article

Recent clinical studies

Etiology

CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis.
Gillmore JD, Gane E, Taubel J, Kao J, Fontana M, Maitland ML, Seitzer J, O'Connell D, Walsh KR, Wood K, Phillips J, Xu Y, Amaral A, Boyd AP, Cehelsky JE, McKee MD, Schiermeier A, Harari O, Murphy A, Kyratsous CA, Zambrowicz B, Soltys R, Gutstein DE, Leonard J, Sepp-Lorenzino L, Lebwohl D
N Engl J Med 2021 Aug 5;385(6):493-502. Epub 2021 Jun 26 doi: 10.1056/NEJMoa2107454. PMID: 34215024
Reduction in CMR Derived Extracellular Volume With Patisiran Indicates Cardiac Amyloid Regression.
Fontana M, Martinez-Naharro A, Chacko L, Rowczenio D, Gilbertson JA, Whelan CJ, Strehina S, Lane T, Moon J, Hutt DF, Kellman P, Petrie A, Hawkins PN, Gillmore JD
JACC Cardiovasc Imaging 2021 Jan;14(1):189-199. Epub 2020 Oct 28 doi: 10.1016/j.jcmg.2020.07.043. PMID: 33129740
Amyloid cardiomyopathy.
Kristen AV
Herz 2020 May;45(3):267-271. doi: 10.1007/s00059-020-04904-4. PMID: 32107564
Association between hearing loss and hereditary ATTR amyloidosis.
Bartier S, Bodez D, Kharoubi M, Guellich A, Canouï-Poitrine F, Chatelin V, Coste A, Damy T, Béquignon E
Amyloid 2019 Dec;26(4):234-242. Epub 2019 Sep 10 doi: 10.1080/13506129.2019.1663814. PMID: 31502881
Amyloidosis of the Lung.
Khoor A, Colby TV
Arch Pathol Lab Med 2017 Feb;141(2):247-254. doi: 10.5858/arpa.2016-0102-RA. PMID: 28134587

Diagnosis

Reduction in CMR Derived Extracellular Volume With Patisiran Indicates Cardiac Amyloid Regression.
Fontana M, Martinez-Naharro A, Chacko L, Rowczenio D, Gilbertson JA, Whelan CJ, Strehina S, Lane T, Moon J, Hutt DF, Kellman P, Petrie A, Hawkins PN, Gillmore JD
JACC Cardiovasc Imaging 2021 Jan;14(1):189-199. Epub 2020 Oct 28 doi: 10.1016/j.jcmg.2020.07.043. PMID: 33129740
Amyloid cardiomyopathy.
Kristen AV
Herz 2020 May;45(3):267-271. doi: 10.1007/s00059-020-04904-4. PMID: 32107564
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
Hereditary ATTR amyloidosis: burden of illness and diagnostic challenges.
Gertz MA
Am J Manag Care 2017 Jun;23(7 Suppl):S107-S112. PMID: 28978215
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.
Sekijima Y
J Neurol Neurosurg Psychiatry 2015 Sep;86(9):1036-43. Epub 2015 Jan 20 doi: 10.1136/jnnp-2014-308724. PMID: 25604431

Therapy

Delivery Strategies for mRNA Vaccines.
Ramachandran S, Satapathy SR, Dutta T
Pharmaceut Med 2022 Feb;36(1):11-20. Epub 2022 Jan 30 doi: 10.1007/s40290-021-00417-5. PMID: 35094366Free PMC Article
CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis.
Gillmore JD, Gane E, Taubel J, Kao J, Fontana M, Maitland ML, Seitzer J, O'Connell D, Walsh KR, Wood K, Phillips J, Xu Y, Amaral A, Boyd AP, Cehelsky JE, McKee MD, Schiermeier A, Harari O, Murphy A, Kyratsous CA, Zambrowicz B, Soltys R, Gutstein DE, Leonard J, Sepp-Lorenzino L, Lebwohl D
N Engl J Med 2021 Aug 5;385(6):493-502. Epub 2021 Jun 26 doi: 10.1056/NEJMoa2107454. PMID: 34215024
Novel RNA-targeted therapies for hereditary ATTR amyloidosis and their impact on the autonomic nervous system.
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
Liver transplantation in transthyretin amyloidosis: Characteristics and management related to kidney disease.
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
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.
Sekijima Y
J Neurol Neurosurg Psychiatry 2015 Sep;86(9):1036-43. Epub 2015 Jan 20 doi: 10.1136/jnnp-2014-308724. PMID: 25604431

Prognosis

Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.
Zimmermann M, Deininger N, Willikens S, Haack TB, Grundmann-Hauser K, Streubel B, Schreiber M, Lerche H, Grimm A
Neurol Sci 2021 Apr;42(4):1523-1525. Epub 2020 Nov 13 doi: 10.1007/s10072-020-04896-3. PMID: 33188503Free PMC Article
Reduction in CMR Derived Extracellular Volume With Patisiran Indicates Cardiac Amyloid Regression.
Fontana M, Martinez-Naharro A, Chacko L, Rowczenio D, Gilbertson JA, Whelan CJ, Strehina S, Lane T, Moon J, Hutt DF, Kellman P, Petrie A, Hawkins PN, Gillmore JD
JACC Cardiovasc Imaging 2021 Jan;14(1):189-199. Epub 2020 Oct 28 doi: 10.1016/j.jcmg.2020.07.043. PMID: 33129740
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
Liver transplantation in transthyretin amyloidosis: Characteristics and management related to kidney disease.
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
Amyloid in endomyocardial biopsies.
Kieninger B, Eriksson M, Kandolf R, Schnabel PA, Schönland S, Kristen AV, Hegenbart U, Lohse P, Röcken C
Virchows Arch 2010 May;456(5):523-32. Epub 2010 Apr 8 doi: 10.1007/s00428-010-0909-5. PMID: 20376481

Clinical prediction guides

Resveratrol Derivatives Inhibit Transthyretin Fibrillization: Structural Insights into the Interactions between Resveratrol Derivatives and Transthyretin.
Yokoyama T, Kusaka K, Mizuguchi M, Nabeshima Y, Fujiwara S
J Med Chem 2023 Nov 23;66(22):15511-15523. Epub 2023 Nov 1 doi: 10.1021/acs.jmedchem.3c01698. PMID: 37910439
CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis.
Gillmore JD, Gane E, Taubel J, Kao J, Fontana M, Maitland ML, Seitzer J, O'Connell D, Walsh KR, Wood K, Phillips J, Xu Y, Amaral A, Boyd AP, Cehelsky JE, McKee MD, Schiermeier A, Harari O, Murphy A, Kyratsous CA, Zambrowicz B, Soltys R, Gutstein DE, Leonard J, Sepp-Lorenzino L, Lebwohl D
N Engl J Med 2021 Aug 5;385(6):493-502. Epub 2021 Jun 26 doi: 10.1056/NEJMoa2107454. PMID: 34215024
Reduction in CMR Derived Extracellular Volume With Patisiran Indicates Cardiac Amyloid Regression.
Fontana M, Martinez-Naharro A, Chacko L, Rowczenio D, Gilbertson JA, Whelan CJ, Strehina S, Lane T, Moon J, Hutt DF, Kellman P, Petrie A, Hawkins PN, Gillmore JD
JACC Cardiovasc Imaging 2021 Jan;14(1):189-199. Epub 2020 Oct 28 doi: 10.1016/j.jcmg.2020.07.043. PMID: 33129740
Novel RNA-targeted therapies for hereditary ATTR amyloidosis and their impact on the autonomic nervous system.
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
Electrophysiological demyelinating features in hereditary ATTR amyloidosis.
Ohashi N, Kodaira M, Morita H, Sekijima Y
Amyloid 2019 Mar;26(1):15-23. Epub 2019 Jan 26 doi: 10.1080/13506129.2018.1564903. PMID: 30688105

Recent systematic reviews

Characteristics and natural history of autonomic involvement in hereditary ATTR amyloidosis: a systematic review.
Gonzalez-Duarte A, Valdés-Ferrer SI, Cantú-Brito C
Clin Auton Res 2019 Sep;29(Suppl 1):1-9. Epub 2019 Aug 31 doi: 10.1007/s10286-019-00630-y. PMID: 31473866Free PMC Article

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