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....

Full description

Saved in:
Bibliographic Details
Main Author: Mustafa Vakur Bor
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Hereditas
Online Access:https://doi.org/10.1186/s41065-025-00435-2
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850139165418586112
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