Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study
Abstract Background and aims 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 o...
Saved in:
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-03-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03589-4 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850237827593273344 |
|---|---|
| author | Yann Péréon David Adams Jean-Philippe Camdessanché Jean-Baptiste Chanson Pascal Cintas Laurent Magy Aïssatou Signaté Guilhem Solé Juliette Svahn Céline Tard Cyrla Hababou Shahram Attarian |
| author_facet | Yann Péréon David Adams Jean-Philippe Camdessanché Jean-Baptiste Chanson Pascal Cintas Laurent Magy Aïssatou Signaté Guilhem Solé Juliette Svahn Céline Tard Cyrla Hababou Shahram Attarian |
| author_sort | Yann Péréon |
| collection | DOAJ |
| description | Abstract Background and aims 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 TTR 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. Results One-hundred and ten (10%) HCPs responded. A total of 2131 patients with CIDP were identified, including 315 (22.1%) with IVIg-NR CIDP. TTR gene analysis was performed in 144 patients and was positive in 43 cases (29.9%). Conclusions 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. |
| format | Article |
| id | doaj-art-8eba2ede778d4e22a5fd982ee67d9181 |
| institution | OA Journals |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-8eba2ede778d4e22a5fd982ee67d91812025-08-20T02:01:39ZengBMCOrphanet Journal of Rare Diseases1750-11722025-03-012011710.1186/s13023-025-03589-4Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective studyYann Péréon0David Adams1Jean-Philippe Camdessanché2Jean-Baptiste Chanson3Pascal Cintas4Laurent Magy5Aïssatou Signaté6Guilhem Solé7Juliette Svahn8Céline Tard9Cyrla Hababou10Shahram Attarian11Centre de Référence Maladies Neuromusculaires AOC, Filnemus, Euro-NMD, Hôtel-Dieu, CHU de NantesDépartement de Neurologie, Centre de Référence Neuropathies Rares CERAMIC, CHU de Bicêtre, Université Paris-SaclayDepartment of Neurology, Reference Centre for Neuromuscular Diseases, Hôpital Nord, University Hospital of Saint-EtienneService de Neurologie, Hôpitaux Universitaires de Strasbourg et Centre de Référence NeuromusculaireHôpital Pierre Paul Riquet, Centre de Référence de Pathologie NeuromusculaireService et Laboratoire de Neurologie, Centre de Référence National Neuropathies Périphériques Rares, Centre Hospitalier Universitaire DupuytrenService de Neurologie, Centre Hospitalier Universitaire de MartiniqueCentre de Référence des Maladies Neuromusculaires AOC, Service de Neurologie et des Maladies Neuromusculaires, Hôpital Pellegrin, Centre Hospitalier Universitaire de Bordeaux Service de Pathologies Neuromusculaires, Hôpital Pierre Wertheimer, Hospices Civils de LyonService de Neurologie, CHU de Lille, Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile-de-FranceLaboratoire AlnylamCentre de Référence des Maladies Neuromusculaires et de la SLA, CHU la Timone, Aix-Marseille UniversitéAbstract Background and aims 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 TTR 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. Results One-hundred and ten (10%) HCPs responded. A total of 2131 patients with CIDP were identified, including 315 (22.1%) with IVIg-NR CIDP. TTR gene analysis was performed in 144 patients and was positive in 43 cases (29.9%). Conclusions 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.https://doi.org/10.1186/s13023-025-03589-4Chronic inflammatory demyelinating polyradiculoneuropathyHereditary transthyretin amyloidosisIntravenous immunoglobulins |
| spellingShingle | Yann Péréon David Adams Jean-Philippe Camdessanché Jean-Baptiste Chanson Pascal Cintas Laurent Magy Aïssatou Signaté Guilhem Solé Juliette Svahn Céline Tard Cyrla Hababou Shahram Attarian Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study Orphanet Journal of Rare Diseases Chronic inflammatory demyelinating polyradiculoneuropathy Hereditary transthyretin amyloidosis Intravenous immunoglobulins |
| title | Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study |
| title_full | Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study |
| title_fullStr | Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study |
| title_full_unstemmed | Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study |
| title_short | Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study |
| title_sort | diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins results of a retrospective study |
| topic | Chronic inflammatory demyelinating polyradiculoneuropathy Hereditary transthyretin amyloidosis Intravenous immunoglobulins |
| url | https://doi.org/10.1186/s13023-025-03589-4 |
| work_keys_str_mv | AT yannpereon diagnosisofhereditarytransthyretinamyloidosisinpatientswithsuspectedchronicinflammatorydemyelinatingpolyneuropathyunresponsivetointravenousimmunoglobulinsresultsofaretrospectivestudy AT davidadams diagnosisofhereditarytransthyretinamyloidosisinpatientswithsuspectedchronicinflammatorydemyelinatingpolyneuropathyunresponsivetointravenousimmunoglobulinsresultsofaretrospectivestudy AT jeanphilippecamdessanche diagnosisofhereditarytransthyretinamyloidosisinpatientswithsuspectedchronicinflammatorydemyelinatingpolyneuropathyunresponsivetointravenousimmunoglobulinsresultsofaretrospectivestudy AT jeanbaptistechanson diagnosisofhereditarytransthyretinamyloidosisinpatientswithsuspectedchronicinflammatorydemyelinatingpolyneuropathyunresponsivetointravenousimmunoglobulinsresultsofaretrospectivestudy AT pascalcintas diagnosisofhereditarytransthyretinamyloidosisinpatientswithsuspectedchronicinflammatorydemyelinatingpolyneuropathyunresponsivetointravenousimmunoglobulinsresultsofaretrospectivestudy AT laurentmagy diagnosisofhereditarytransthyretinamyloidosisinpatientswithsuspectedchronicinflammatorydemyelinatingpolyneuropathyunresponsivetointravenousimmunoglobulinsresultsofaretrospectivestudy AT aissatousignate diagnosisofhereditarytransthyretinamyloidosisinpatientswithsuspectedchronicinflammatorydemyelinatingpolyneuropathyunresponsivetointravenousimmunoglobulinsresultsofaretrospectivestudy AT guilhemsole diagnosisofhereditarytransthyretinamyloidosisinpatientswithsuspectedchronicinflammatorydemyelinatingpolyneuropathyunresponsivetointravenousimmunoglobulinsresultsofaretrospectivestudy AT juliettesvahn diagnosisofhereditarytransthyretinamyloidosisinpatientswithsuspectedchronicinflammatorydemyelinatingpolyneuropathyunresponsivetointravenousimmunoglobulinsresultsofaretrospectivestudy AT celinetard diagnosisofhereditarytransthyretinamyloidosisinpatientswithsuspectedchronicinflammatorydemyelinatingpolyneuropathyunresponsivetointravenousimmunoglobulinsresultsofaretrospectivestudy AT cyrlahababou diagnosisofhereditarytransthyretinamyloidosisinpatientswithsuspectedchronicinflammatorydemyelinatingpolyneuropathyunresponsivetointravenousimmunoglobulinsresultsofaretrospectivestudy AT shahramattarian diagnosisofhereditarytransthyretinamyloidosisinpatientswithsuspectedchronicinflammatorydemyelinatingpolyneuropathyunresponsivetointravenousimmunoglobulinsresultsofaretrospectivestudy |