A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE)
Abstract Background Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives pa...
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BMC
2025-01-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-024-03425-1 |
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| author | Dawn A. Laney Kayla A. Banks Eleanor G. Botha Maria Keever Valynne Long Allison L. Foley |
| author_facet | Dawn A. Laney Kayla A. Banks Eleanor G. Botha Maria Keever Valynne Long Allison L. Foley |
| author_sort | Dawn A. Laney |
| collection | DOAJ |
| description | Abstract Background Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression. The objective of this study is to determine if patients with a nonspecific diagnosis, such as muscle weakness, may be at risk for LOPD using retrospective chart review of patients seen at two centers: an academic center and a community health system. Results Initial data pulls identified 80,070 patients with one of the ICD-10 codes of interest. Chart review found 551 of these patients also had at least one lab value commonly abnormal in individuals with LOPD and of these 110 scored as “at-risk”. After removing phenocopies/other confirmed unrelated diagnoses, 46 individuals were contacted either directly or through their healthcare provider for genetic counseling. Three patients had pretest genetic counseling and were tested for decreased levels of acid-α-glucosidase. One patient was found to have deficient acid-α-glucosidase. Additionally, a physician educated through the program ordered LOPD testing for their patient and diagnosed them with LOPD. Conclusion This study confirms that a symptom-based scoring tool and chart review combined with provider education can identify patients who are at increased likelihood to have a missed LOPD diagnosis. |
| format | Article |
| id | doaj-art-59792f6abcf94a19a3654fbc1c52d008 |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-59792f6abcf94a19a3654fbc1c52d0082025-01-19T12:38:32ZengBMCOrphanet Journal of Rare Diseases1750-11722025-01-012011810.1186/s13023-024-03425-1A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE)Dawn A. Laney0Kayla A. Banks1Eleanor G. Botha2Maria Keever3Valynne Long4Allison L. Foley5Department of Human Genetics, Emory UniversityParent-Project Muscular DystrophyDepartment of Human Genetics, Emory UniversityWakeMed Physician PracticesDepartment of Human Genetics, Emory UniversityDepartment of Human Genetics, Emory UniversityAbstract Background Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression. The objective of this study is to determine if patients with a nonspecific diagnosis, such as muscle weakness, may be at risk for LOPD using retrospective chart review of patients seen at two centers: an academic center and a community health system. Results Initial data pulls identified 80,070 patients with one of the ICD-10 codes of interest. Chart review found 551 of these patients also had at least one lab value commonly abnormal in individuals with LOPD and of these 110 scored as “at-risk”. After removing phenocopies/other confirmed unrelated diagnoses, 46 individuals were contacted either directly or through their healthcare provider for genetic counseling. Three patients had pretest genetic counseling and were tested for decreased levels of acid-α-glucosidase. One patient was found to have deficient acid-α-glucosidase. Additionally, a physician educated through the program ordered LOPD testing for their patient and diagnosed them with LOPD. Conclusion This study confirms that a symptom-based scoring tool and chart review combined with provider education can identify patients who are at increased likelihood to have a missed LOPD diagnosis.https://doi.org/10.1186/s13023-024-03425-1Risk assessmentGenetic testingComplex diseaseLate-onset Pompe diseaseElectronic medical recordAcid-α-glucosidase |
| spellingShingle | Dawn A. Laney Kayla A. Banks Eleanor G. Botha Maria Keever Valynne Long Allison L. Foley A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE) Orphanet Journal of Rare Diseases Risk assessment Genetic testing Complex disease Late-onset Pompe disease Electronic medical record Acid-α-glucosidase |
| title | A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE) |
| title_full | A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE) |
| title_fullStr | A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE) |
| title_full_unstemmed | A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE) |
| title_short | A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE) |
| title_sort | study to identify individuals at risk to be affected by late onset pompe disease who had previously been given a non specific or tentative diagnosis for their muscle weakness pompe pursue |
| topic | Risk assessment Genetic testing Complex disease Late-onset Pompe disease Electronic medical record Acid-α-glucosidase |
| url | https://doi.org/10.1186/s13023-024-03425-1 |
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