Peck Rachel C, Fitzgibbon Lucy, Reilly-Stitt Christopher, Doherty Christopher, Phillips Emma, Mumford Andrew D
School of Cellular and Molecular Medicine University of Bristol Bristol UK.
University Hospitals Bristol and Weston NHS Foundation Trust Bristol UK.
Res Pract Thromb Haemost. 2021 Aug 21;5(6):e12568. doi: 10.1002/rth2.12568. eCollection 2021 Aug.
Hypodysfibrinogenemia (HD) is a heterogeneous disorder in which plasma fibrinogen antigen and function are both reduced but discordant. This report addresses the key clinical question of whether genetic analysis enables clinically useful subclassification of patients with HD. We report a new case and identify a further eight previously documented cases that have the laboratory features of HD but biallelic inheritance of quantitative and qualitative fibrinogen gene variants. The cases displayed both bleeding and thrombosis and sometimes had undetectable fibrinogen activity. In all cases, the predicted effect of the coinherited variants is reduced levels of circulating fibrinogen that is all dysfunctional. We propose the term for this subtype of recessively inherited HD that is distinct from the more commonly recognized monoallelic HD caused by a single fibrinogen gene variant.
低纤维蛋白原血症（HD）是一种异质性疾病，其血浆纤维蛋白原抗原和功能均降低但不一致。本报告探讨了基因分析是否能对HD患者进行临床上有用的亚分类这一关键临床问题。我们报告了1例新病例，并识别出另外8例先前记录的病例，这些病例具有HD的实验室特征，但纤维蛋白原基因定量和定性变体呈双等位基因遗传。这些病例既有出血又有血栓形成，有时纤维蛋白原活性检测不到。在所有病例中，共同遗传变体的预测效应是循环纤维蛋白原水平降低且均无功能。我们为这种隐性遗传HD的亚型提出一个术语，它不同于由单个纤维蛋白原基因变体引起的更常见的单等位基因HD。
