Novel variants require established frameworks: emphasizing the role of ISTH diagnostic and classification guidelines in congenital fibrinogen disorders
Abstract This commentary aims to highlight the importance of applying the diagnostic and classification guidelines of the International Society on Thrombosis and Haemostasis (ISTH), along with standardized bleeding assessment tools, in the evaluation of patients with congenital fibrinogen disorders....
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| Format: | Article |
| Language: | English |
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BMC
2025-04-01
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| Series: | Hereditas |
| Online Access: | https://doi.org/10.1186/s41065-025-00435-2 |
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| _version_ | 1850139165418586112 |
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| author | Mustafa Vakur Bor |
| author_facet | Mustafa Vakur Bor |
| author_sort | Mustafa Vakur Bor |
| collection | DOAJ |
| description | Abstract This commentary aims to highlight the importance of applying the diagnostic and classification guidelines of the International Society on Thrombosis and Haemostasis (ISTH), along with standardized bleeding assessment tools, in the evaluation of patients with congenital fibrinogen disorders. Additionally, it addresses key laboratory methodologies relevant to the diagnosis of these conditions. We believe that this commentary will contribute meaningfully to the ongoing discussions and promote the adoption of standardized approaches in the assessment of rare congenital fibrinogen disorders. |
| format | Article |
| id | doaj-art-da7738c727304d81882adc46a27e8b28 |
| institution | OA Journals |
| issn | 1601-5223 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditas |
| spelling | doaj-art-da7738c727304d81882adc46a27e8b282025-08-20T02:30:23ZengBMCHereditas1601-52232025-04-0116211210.1186/s41065-025-00435-2Novel variants require established frameworks: emphasizing the role of ISTH diagnostic and classification guidelines in congenital fibrinogen disordersMustafa Vakur Bor0Unit for Thrombosis Research, Department of Regional Health Science, University of Southern DenmarkAbstract This commentary aims to highlight the importance of applying the diagnostic and classification guidelines of the International Society on Thrombosis and Haemostasis (ISTH), along with standardized bleeding assessment tools, in the evaluation of patients with congenital fibrinogen disorders. Additionally, it addresses key laboratory methodologies relevant to the diagnosis of these conditions. We believe that this commentary will contribute meaningfully to the ongoing discussions and promote the adoption of standardized approaches in the assessment of rare congenital fibrinogen disorders.https://doi.org/10.1186/s41065-025-00435-2 |
| spellingShingle | Mustafa Vakur Bor Novel variants require established frameworks: emphasizing the role of ISTH diagnostic and classification guidelines in congenital fibrinogen disorders Hereditas |
| title | Novel variants require established frameworks: emphasizing the role of ISTH diagnostic and classification guidelines in congenital fibrinogen disorders |
| title_full | Novel variants require established frameworks: emphasizing the role of ISTH diagnostic and classification guidelines in congenital fibrinogen disorders |
| title_fullStr | Novel variants require established frameworks: emphasizing the role of ISTH diagnostic and classification guidelines in congenital fibrinogen disorders |
| title_full_unstemmed | Novel variants require established frameworks: emphasizing the role of ISTH diagnostic and classification guidelines in congenital fibrinogen disorders |
| title_short | Novel variants require established frameworks: emphasizing the role of ISTH diagnostic and classification guidelines in congenital fibrinogen disorders |
| title_sort | novel variants require established frameworks emphasizing the role of isth diagnostic and classification guidelines in congenital fibrinogen disorders |
| url | https://doi.org/10.1186/s41065-025-00435-2 |
| work_keys_str_mv | AT mustafavakurbor novelvariantsrequireestablishedframeworksemphasizingtheroleofisthdiagnosticandclassificationguidelinesincongenitalfibrinogendisorders |