Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective
This consensus statement by a panel of neurology experts aimed to provide a practical and implementable guidance document to assist clinicians with the best clinical practice in terms of diagnosis, treatment, and monitoring of late-onset Pompe disease (LOPD). The participating experts consider the c...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-05-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1095134/full |
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| author | Sevim Erdem Ozdamar Ayse Filiz Koc Hacer Durmus Tekce Dilcan Kotan Ahmet Hakan Ekmekci Ihsan Sukru Sengun Ayse Nur Yuceyar Kayihan Uluc |
| author_facet | Sevim Erdem Ozdamar Ayse Filiz Koc Hacer Durmus Tekce Dilcan Kotan Ahmet Hakan Ekmekci Ihsan Sukru Sengun Ayse Nur Yuceyar Kayihan Uluc |
| author_sort | Sevim Erdem Ozdamar |
| collection | DOAJ |
| description | This consensus statement by a panel of neurology experts aimed to provide a practical and implementable guidance document to assist clinicians with the best clinical practice in terms of diagnosis, treatment, and monitoring of late-onset Pompe disease (LOPD). The participating experts consider the clinical suspicion of LOPD by the physician to be of utmost importance in the prevention of diagnostic and therapeutic delay in LOPD patients. A diagnostic algorithm is proposed to facilitate the diagnosis of LOPD in patients presenting with unexplained proximal/axial weakness (with or without respiratory symptoms) or restrictive respiratory insufficiency with hyperCKemia and/or exercise intolerance as the red flag symptoms/signs that raise the index of suspicion for LOPD diagnosis. The diagnosis is based on the subsequent use of dried blood spot (DBS) assay, and the DBS assay can be confirmed by acid alpha-glucosidase (GAA) tissue analysis in leukocytes, fibroblasts, or muscle fibers and/or genetic mutation analysis. Accordingly, experts consider increased awareness among physicians about potential presenting characteristics with a high index of suspicion for LOPD to be crucial to suspect and consider LOPD in the differential diagnosis, while strongly suggesting the use of a diagnostic algorithm combined with DBS assay and confirmatory tests in the timely diagnosis of LOPD and implementation of best practice patterns. |
| first_indexed | 2024-03-13T10:54:25Z |
| format | Article |
| id | doaj.art-7a4a0315371b4467a065b8add9f7fa11 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-03-13T10:54:25Z |
| publishDate | 2023-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-7a4a0315371b4467a065b8add9f7fa112023-05-17T05:31:00ZengFrontiers Media S.A.Frontiers in Neurology1664-22952023-05-011410.3389/fneur.2023.10951341095134Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspectiveSevim Erdem Ozdamar0Ayse Filiz Koc1Hacer Durmus Tekce2Dilcan Kotan3Ahmet Hakan Ekmekci4Ihsan Sukru Sengun5Ayse Nur Yuceyar6Kayihan Uluc7Department of Neurology, Hacettepe University Faculty of Medicine, Ankara, TürkiyeDepartment of Neurology, Cukurova University Faculty of Medicine, Adana, TürkiyeDepartment of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, TürkiyeDepartment of Neurology, Sakarya University Faculty of Medicine, Sakarya, TürkiyeDepartment of Neurology, Selcuk University Faculty of Medicine, Konya, TürkiyeDepartment of Neurology, Dokuz Eylul University Faculty of Medicine, Izmir, TürkiyeDepartment of Neurology, Ege University Faculty of Medicine, Izmir, TürkiyeDepartment of Neurology, Marmara University School of Medicine, Istanbul, TürkiyeThis consensus statement by a panel of neurology experts aimed to provide a practical and implementable guidance document to assist clinicians with the best clinical practice in terms of diagnosis, treatment, and monitoring of late-onset Pompe disease (LOPD). The participating experts consider the clinical suspicion of LOPD by the physician to be of utmost importance in the prevention of diagnostic and therapeutic delay in LOPD patients. A diagnostic algorithm is proposed to facilitate the diagnosis of LOPD in patients presenting with unexplained proximal/axial weakness (with or without respiratory symptoms) or restrictive respiratory insufficiency with hyperCKemia and/or exercise intolerance as the red flag symptoms/signs that raise the index of suspicion for LOPD diagnosis. The diagnosis is based on the subsequent use of dried blood spot (DBS) assay, and the DBS assay can be confirmed by acid alpha-glucosidase (GAA) tissue analysis in leukocytes, fibroblasts, or muscle fibers and/or genetic mutation analysis. Accordingly, experts consider increased awareness among physicians about potential presenting characteristics with a high index of suspicion for LOPD to be crucial to suspect and consider LOPD in the differential diagnosis, while strongly suggesting the use of a diagnostic algorithm combined with DBS assay and confirmatory tests in the timely diagnosis of LOPD and implementation of best practice patterns.https://www.frontiersin.org/articles/10.3389/fneur.2023.1095134/fulllate-onset Pompe diseasediagnostic delaydiagnostic algorithmindex of suspiciontreatmentoutcome |
| spellingShingle | Sevim Erdem Ozdamar Ayse Filiz Koc Hacer Durmus Tekce Dilcan Kotan Ahmet Hakan Ekmekci Ihsan Sukru Sengun Ayse Nur Yuceyar Kayihan Uluc Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective Frontiers in Neurology late-onset Pompe disease diagnostic delay diagnostic algorithm index of suspicion treatment outcome |
| title | Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective |
| title_full | Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective |
| title_fullStr | Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective |
| title_full_unstemmed | Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective |
| title_short | Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective |
| title_sort | expert opinion on the diagnostic odyssey and management of late onset pompe disease a neurologist s perspective |
| topic | late-onset Pompe disease diagnostic delay diagnostic algorithm index of suspicion treatment outcome |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2023.1095134/full |
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