{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T05:22:57Z","timestamp":1784179377502,"version":"3.55.0"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100006400","name":"alnylam","doi-asserted-by":"crossref","award":["alnylam"],"award-info":[{"award-number":["alnylam"]}],"id":[{"id":"10.13039\/100006400","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background and aims<\/jats:title>\n            <jats:p>Hereditary transthyretin amyloidosis (ATTRv) should be considered in patients diagnosed with intravenous immunoglobulin (IVIg)-resistant chronic inflammatory demyelinating polyradiculoneuropathy (IVIg-NR CIDP). In this 1-year long, retrospective, multicentric study, an online questionnaire was sent to 1100 French healthcare professionals (HCPs) investigating: (i) how many IVIg-NR CIDP patients they followed; (ii) how many IVIg-NR CIDP patients had undergone <jats:italic>TTR<\/jats:italic> gene analysis; and (iii) how many IVIg-NR CIDP patients were eventually diagnosed with ATTRv. The questionnaire was sent every 3 months for 1 year and contained information on ATTRv clinical manifestations and diagnosis.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>One-hundred and ten (10%) HCPs responded. A total of 2131 patients with CIDP were identified, including 315 (22.1%) with IVIg-NR CIDP. <jats:italic>TTR<\/jats:italic> gene analysis was performed in 144 patients and was positive in 43 cases (29.9%).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>This study demonstrates that ATTRv should be investigated systematically in patients diagnosed with IVIg-NR CIDP. HCP-directed information campaigns are useful for modifying diagnostic practices.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s13023-025-03589-4","type":"journal-article","created":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T11:13:32Z","timestamp":1740827612000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study"],"prefix":"10.1186","volume":"20","author":[{"given":"Yann","family":"P\u00e9r\u00e9on","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Philippe","family":"Camdessanch\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Baptiste","family":"Chanson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Cintas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Magy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A\u00efssatou","family":"Signat\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilhem","family":"Sol\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Svahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Tard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyrla","family":"Hababou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahram","family":"Attarian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,3,1]]},"reference":[{"key":"3589_CR1","doi-asserted-by":"publisher","first-page":"953","DOI":"10.1016\/j.neurol.2022.06.004","volume":"178","author":"G Fargeot","year":"2022","unstructured":"Fargeot G, Gitiaux C, Magy L, Pereon Y, Delmont E, Viala K, et al. French recommendations for the management of adult & pediatric chronic inflammatory demyeliniating polyradiculoneuropathy (CIDP). Rev Neurol (Paris). 2022;178:953\u201368.","journal-title":"Rev Neurol (Paris)"},{"key":"3589_CR2","first-page":"CD010369","volume":"1","author":"AL Oaklander","year":"2017","unstructured":"Oaklander AL, Lunn MP, Hughes RA, van Schaik IN, Frost C, Chalk CH. Treatments for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): an overview of systematic reviews. Cochrane Database Syst Rev. 2017;1:CD010369.","journal-title":"Cochrane Database Syst Rev"},{"issue":"Suppl 1","key":"3589_CR3","doi-asserted-by":"publisher","first-page":"S70","DOI":"10.1007\/s10875-010-9399-0","volume":"30","author":"R Hughes","year":"2010","unstructured":"Hughes R. Chronic inflammatory demyelinating polyradiculoneuropathy. J Clin Immunol. 2010;30(Suppl 1):S70\u201373.","journal-title":"J Clin Immunol"},{"key":"3589_CR4","doi-asserted-by":"publisher","first-page":"3556","DOI":"10.1111\/ene.14959","volume":"28","author":"PYK Van den Bergh","year":"2021","unstructured":"Van den Bergh PYK, van Doorn PA, Hadden RDM, Avau B, Vankrunkelsven P, Allen JA, et al. European Academy of Neurology\/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint Task Force-Second revision. Eur J Neurol. 2021;28:3556\u201383.","journal-title":"Eur J Neurol"},{"key":"3589_CR5","doi-asserted-by":"publisher","first-page":"120478","DOI":"10.1016\/j.jns.2022.120478","volume":"443","author":"RA Lewis","year":"2022","unstructured":"Lewis RA, van Doorn PA, Sommer C. Tips in navigating the diagnostic complexities of chronic inflammatory demyelinating polyradiculoneuropathy. J Neurol Sci. 2022;443:120478.","journal-title":"J Neurol Sci"},{"issue":"Suppl 17","key":"3589_CR6","first-page":"S371","volume":"24","author":"M Ryan","year":"2018","unstructured":"Ryan M, Ryan SJ. Chronic inflammatory demyelinating polyneuropathy: considerations for diagnosis, management, and population health. Am J Manag Care. 2018;24(Suppl 17):S371\u20139.","journal-title":"Am J Manag Care"},{"key":"3589_CR7","doi-asserted-by":"publisher","first-page":"2504","DOI":"10.1212\/WNL.94.15_supplement.2504","volume":"94 Suppl 15","author":"J Godil","year":"2020","unstructured":"Godil J, Chahin N, Ragole T, Visser A, Barrett M, Moshe-Lilie O, et al. IVIg refractory CIDP: clinical characteristics, antibodies, and response to alternative treatment (2504). Neurology. 2020;94 Suppl 15:2504.","journal-title":"Neurology"},{"key":"3589_CR8","doi-asserted-by":"publisher","first-page":"e143","DOI":"10.1212\/WNL.0000000000005777","volume":"91","author":"P Lozeron","year":"2018","unstructured":"Lozeron P, Mariani LL, Dodet P, Beaudonnet G, Th\u00e9audin M, Adam C, et al. Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy. Neurology. 2018;91:e143\u201352.","journal-title":"Neurology"},{"key":"3589_CR9","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1097\/CND.0000000000000270","volume":"21","author":"C Schwartzlow","year":"2020","unstructured":"Schwartzlow C, Kazamel M. Hereditary transthyretin amyloidosis: clinical presentation and management updates. J Clin Neuromuscul Dis. 2020;21:144\u201356.","journal-title":"J Clin Neuromuscul Dis"},{"key":"3589_CR10","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1038\/s41582-019-0210-4","volume":"15","author":"D Adams","year":"2019","unstructured":"Adams D, Koike H, Slama M, Coelho T. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol. 2019;15:387\u2013404.","journal-title":"Nat Rev Neurol"},{"key":"3589_CR11","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1016\/S1474-4422(23)00334-4","volume":"22","author":"D Adams","year":"2023","unstructured":"Adams D, Sekijima Y, Concei\u00e7\u00e3o I, Waddington-Cruz M, Polydefkis M, Echaniz-Laguna A, et al. Hereditary transthyretin amyloid neuropathies: advances in pathophysiology, biomarkers, and treatment. Lancet Neurol. 2023;22:1061\u201374.","journal-title":"Lancet Neurol"},{"key":"3589_CR12","doi-asserted-by":"publisher","first-page":"749","DOI":"10.2147\/TCRM.S185677","volume":"16","author":"MD Benson","year":"2020","unstructured":"Benson MD, Dasgupta NR, Rao R. Diagnosis and screening of patients with hereditary transthyretin amyloidosis (h ATTR): current strategies and guidelines. Ther Clin Risk Manag. 2020;16:749\u201358.","journal-title":"Ther Clin Risk Manag"},{"key":"3589_CR13","doi-asserted-by":"publisher","first-page":"2109","DOI":"10.1007\/s00415-019-09688-0","volume":"268","author":"D Adams","year":"2021","unstructured":"Adams D, Ando Y, Beir\u00e3o JM, Coelho T, Gertz MA, Gillmore JD, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol. 2021;268:2109\u201322.","journal-title":"J Neurol"},{"issue":"Suppl 1","key":"3589_CR14","doi-asserted-by":"publisher","first-page":"S14","DOI":"10.1097\/WCO.0000000000000289","volume":"29","author":"D Adams","year":"2016","unstructured":"Adams D, Suhr OB, Hund E, Obici L, Tournev I, Campistol JM, et al. European Network for TTR-FAP (ATTReuNET). First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr Opin Neurol. 2016;29(Suppl 1):S14\u201326.","journal-title":"Curr Opin Neurol"},{"key":"3589_CR15","doi-asserted-by":"publisher","first-page":"3093","DOI":"10.1007\/s00415-013-7124-7","volume":"260","author":"MF Dohrn","year":"2013","unstructured":"Dohrn MF, R\u00f6cken C, De Bleecker JL, Martin JJ, Vorgerd M, Van den Bergh PY, et al. Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy. J Neurol. 2013;260:3093\u2013108.","journal-title":"J Neurol"},{"key":"3589_CR16","doi-asserted-by":"publisher","first-page":"1057","DOI":"10.1007\/s10072-012-1105-y","volume":"34","author":"M Luigetti","year":"2013","unstructured":"Luigetti M, Conte A, Del Grande A, Bisogni G, Madia F, Monaco ML, et al. TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. Neurol Sci. 2013;34:1057\u201363.","journal-title":"Neurol Sci"},{"key":"3589_CR17","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1111\/j.1468-1331.2009.02930.x","volume":"17","author":"PYK Van den Bergh","year":"2010","unstructured":"Van den Bergh PYK, Hadden RD, Bouche P, Cornblath DR, Hahn A, Illa I, et al. European Federation of Neurological Societies; peripheral nerve society. European Federation of Neurological Societies\/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies and the peripheral nerve society-first revision. Eur J Neurol. 2010;17:356\u201363.","journal-title":"Eur J Neurol"},{"key":"3589_CR18","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1016\/j.autneu.2011.02.004","volume":"161","author":"R Freeman","year":"2011","unstructured":"Freeman R, Wieling W, Axelrod FB, Benditt DG, Benarroch E, Biaggioni I, et al. Consensus statement on the definition of orthostatic hypertension, neurally mediated syncope and the postural tachycardia syndrome. Auton Neurosci. 2011;161:46\u20138.","journal-title":"Auton Neurosci"},{"issue":"Suppl 1","key":"3589_CR19","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/s10286-019-00623-x","volume":"29","author":"J-A Palma","year":"2019","unstructured":"Palma J-A, Gonzalez-Duarte A, Kaufman H. Orthostatic hypertension in hereditary transthyretin amyloidosis: epidemiology, diagnosis and management. Clin Auton Res. 2019;29(Suppl 1):33\u201344.","journal-title":"Clin Auton Res"},{"key":"3589_CR20","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1212\/CPJ.0000000000000640","volume":"9","author":"C Karam","year":"2019","unstructured":"Karam C, Dimitrova D, Christ M, Heitner SB. Carpal tunnel syndrome and associated symptoms as first manifestation of hATTR amyloidosis. Neurol Clin Pract. 2019;9:309\u201313.","journal-title":"Neurol Clin Pract"},{"key":"3589_CR21","doi-asserted-by":"publisher","first-page":"1600","DOI":"10.1182\/blood.2023019884","volume":"142","author":"D Adams","year":"2023","unstructured":"Adams D, Algalarrondo V, Echaniz-Laguna A. Hereditary transthyretin amyloidosis in the era of RNA interference, antisense oligonucleotide & CRISPR-Cas9 treatments. Blood. 2023;142:1600\u201312.","journal-title":"Blood"},{"key":"3589_CR22","doi-asserted-by":"publisher","first-page":"e01371","DOI":"10.1002\/brb3.1371","volume":"9","author":"MA Gertz","year":"2019","unstructured":"Gertz MA, Mauermann ML, Grogan M, Coelho T. Advances in the treatment of hereditary transthyretin amyloidosis: a review. Brain Behav. 2019;9:e01371.","journal-title":"Brain Behav"},{"key":"3589_CR23","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1056\/NEJMoa1805689","volume":"379","author":"MS Maurer","year":"2018","unstructured":"Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, et al. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018;379:1007\u201316.","journal-title":"N Engl J Med"},{"key":"3589_CR24","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1136\/jnnp-2021-327909","volume":"93","author":"A Carroll","year":"2022","unstructured":"Carroll A, Dyck PJ, de Carvalho M, Kennerson M, Reilly MM, Kiernan MC, et al. Novel approaches to the diagnosis and management of hereditary transthyretin amyloidosis. J Neurol Neurosurg Psychiatry. 2022;93:668\u201378.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"3589_CR25","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1056\/NEJMoa1716793","volume":"379","author":"MD Benson","year":"2018","unstructured":"Benson MD, Waddington-Cruz M, Berk JL, Polydefkis M, Dyck PJ, Wang AK, et al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med. 2018;379:22\u201331.","journal-title":"N Engl J Med"},{"key":"3589_CR26","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1056\/NEJMoa1716153","volume":"379","author":"D Adams","year":"2018","unstructured":"Adams D, Gonzalez-Duarte A, O\u2019Riordan WD, Yang CC, Ueda M, Kristen AV, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med. 2018;379:11\u201321.","journal-title":"N Engl J Med"},{"key":"3589_CR27","first-page":"1","volume":"30","author":"D Adams","year":"2022","unstructured":"Adams D, Tournev IL, Taylor MS, Coelho T, Plant\u00e9-Bordeneuve V, Berk JL, et al. HELIOS-A collaborators. Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial. Amyloid. 2022;30:1\u20139.","journal-title":"Amyloid"},{"key":"3589_CR28","doi-asserted-by":"publisher","unstructured":"Fargeot G, Echaniz-Laguna A, Labeyrie C, Svahn J, Camdessanch\u00e9 J-P, Cintas P et al. Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study. Amyloid 2023 Oct 19:1\u20138. [Online ahead of print]. https:\/\/doi.org\/10.1080\/13506129.2023.2270661","DOI":"10.1080\/13506129.2023.2270661"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03589-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-025-03589-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03589-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T11:13:35Z","timestamp":1740827615000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-025-03589-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,1]]},"references-count":28,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["3589"],"URL":"https:\/\/doi.org\/10.1186\/s13023-025-03589-4","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,1]]},"assertion":[{"value":"25 March 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 March 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"DA has received consulting fees from Alnylam and Astra Zeneca. DA has received support for attending meetings and travel from Alnylam. SA has received consulting fees from Alnylam, Pfizer and Astra Zeneca. SA has received honoraria for lectures, presentations, speakers\u2019 bureaus, manuscript writing or educational events from Alnylam, Pfizer and Astra Zeneca. SA has received support for attending meetings from Alnylam and Pfizer. JBC has received support for attending meetings from Alnylam, CSL Behring, LFB and Pfizer. JBC has participated on a Data Safety Monitoring Board or Advisory Board for Alnylam. PC has received consulting fees from Alnylam. PC has received honoraria for presentations from Alnylam. LM has received consulting fees from Alnylam, Pfizer and LFB. LM received support for attending meetings and\/or travel from CSL Behring and Novartis. GS has received grants or contracts from Alnylam and Pfizer (study funding paid to his institution). GS has received honoraria for lectures from Alnylam. GS has received honoraria from Alnylam for participation to board. JS has received honoraria for lectures, presentations, speakers\u2019 bureaus, manuscript writing or educational events from Pfizer. JS has participated on a Data Safety Monitoring Board or Advisory Board for Alnylam. CT has received consulting fees from Alnylam and Pfizer. CT has received honoraria for lectures, presentations, speakers\u2019 bureaus, manuscript writing or educational events from Alnylam and Pfizer. CT has received support for attending meetings and\/or travel from Alnylam and Pfizer. CT has participated on a Data Safety Monitoring Board or Advisory Board for Alnylam and Pfizer. CH is an employee of Alnylam. YP has received consulting fees from Alnylam. YP has received honoraria for lectures, presentations, speakers\u2019 bureaus, manuscript writing or educational events. YP has received support for attending meetings and\/or travel from Alnylam. YP has participated on a Data Safety Monitoring Board or Advisory Board for Alnylam. JPC and AS declare no conflicts of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"95"}}