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新型变异需要既定框架:强调国际血栓与止血学会(ISTH)诊断和分类指南在先天性纤维蛋白原异常中的作用

Novel variants require established frameworks: emphasizing the role of ISTH diagnostic and classification guidelines in congenital fibrinogen disorders.

作者信息

Bor Mustafa Vakur

机构信息

Unit for Thrombosis Research, Department of Regional Health Science, University of Southern Denmark, Esbjerg,, Denmark.

Department of Clinical Biochemistry, University Hospital of Southern Denmark, Finsensgade 35, Esbjerg, 6700, Denmark.

出版信息

Hereditas. 2025 Apr 22;162(1):68. doi: 10.1186/s41065-025-00435-2.

DOI:10.1186/s41065-025-00435-2
PMID:40264159
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12013131/
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.

摘要

本评论旨在强调在评估先天性纤维蛋白原异常患者时,应用国际血栓与止血学会(ISTH)的诊断和分类指南以及标准化出血评估工具的重要性。此外,还阐述了与这些疾病诊断相关的关键实验室方法。我们认为,本评论将对正在进行的讨论做出有意义的贡献,并促进在罕见先天性纤维蛋白原异常评估中采用标准化方法。

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本文引用的文献

1
Variants leading to dysfibrinogenaemia in the fibrinogen α-chain at residue Arg19 are not solely associated with bleeding, but also with thrombotic events.纤维蛋白原α链第19位残基精氨酸处导致异常纤维蛋白原血症的变体不仅与出血有关,还与血栓形成事件有关。
Br J Haematol. 2024 Jun;204(6):2501-2503. doi: 10.1111/bjh.19430. Epub 2024 Apr 12.
2
A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family.FGG基因中的一种新突变导致一个中国家庭出现低纤维蛋白原血症。
Hereditas. 2024 Feb 20;161(1):9. doi: 10.1186/s41065-024-00313-3.
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[Not Available].[无可用内容]
Ugeskr Laeger. 2024 Jan 1;186(1):V04230274. doi: 10.61409/V04230274.
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Heterogeneity of Genotype-Phenotype in Congenital Hypofibrinogenemia-A Review of Case Reports Associated with Bleeding and Thrombosis.先天性低纤维蛋白原血症中基因型-表型的异质性——与出血和血栓形成相关的病例报告综述
J Clin Med. 2022 Feb 18;11(4):1083. doi: 10.3390/jcm11041083.
5
Dysfibrinogenemia-Potential Impact of Genotype on Thrombosis or Bleeding.纤维蛋白原血症-基因型对血栓形成或出血的潜在影响。
Semin Thromb Hemost. 2022 Mar;48(2):161-173. doi: 10.1055/s-0041-1730358. Epub 2021 Jul 14.
6
From Routine to Research Laboratory: Strategies for the Diagnosis of Congenital Fibrinogen Disorders.从常规诊断到研究实验室:先天性纤维蛋白原疾病的诊断策略。
Hamostaseologie. 2020 Nov;40(4):460-466. doi: 10.1055/a-1182-3510. Epub 2020 Jul 9.
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Diagnosis and classification of congenital fibrinogen disorders: communication from the SSC of the ISTH.先天性纤维蛋白原异常的诊断与分类:国际血栓与止血学会科学标准化委员会的通讯
J Thromb Haemost. 2018 Sep;16(9):1887-1890. doi: 10.1111/jth.14216. Epub 2018 Aug 3.
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Combined use of Clauss and prothrombin time-derived methods for determining fibrinogen concentrations: Screening for congenital dysfibrinogenemia.联合使用Clauss法和凝血酶原时间衍生法测定纤维蛋白原浓度:先天性异常纤维蛋白原血症的筛查
J Clin Lab Anal. 2018 May;32(4):e22322. doi: 10.1002/jcla.22322. Epub 2017 Sep 18.
9
Establishment of a bleeding score as a diagnostic tool for patients with rare bleeding disorders.建立出血评分作为罕见出血性疾病患者的诊断工具。
Thromb Res. 2016 Dec;148:128-134. doi: 10.1016/j.thromres.2016.11.008. Epub 2016 Nov 15.
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J Thromb Haemost. 2010 Sep;8(9):2063-5. doi: 10.1111/j.1538-7836.2010.03975.x.