Casini Alessandro
Division of Angiology and Hemostasis, University Hospitals of Geneva, Geneva, Switzerland; and Department of Medicine, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Blood. 2025 Feb 20;145(8):801-810. doi: 10.1182/blood.2024025712.
Quantitative fibrinogen disorders, including afibrinogenemia and hypofibrinogenemia, are defined by the complete absence or reduction of fibrinogen, respectively. The diagnosis is based on the measurement of fibrinogen activity and antigen levels, which define the severity of this monogenic disorder. Afibrinogenemia is the result of homozygosity or combined heterozygosity for the causative mutations, whereas monoallelic mutations lead to hypofibrinogenemia. The bleeding phenotype varies in accordance with fibrinogen levels, ranging generally from frequent and often life-threatening bleeding in afibrinogenemia to the absence of symptoms, or mild bleeding symptoms in mild hypofibrinogenemia. The main treatment for quantitative fibrinogen disorders is fibrinogen supplementation. Despite low fibrinogen levels, a tendency for thrombosis is a characteristic of these disorders and may be exacerbated by fibrinogen supplementation. The management of surgery and pregnancy presents significant challenges regarding the amount of fibrinogen replacement and the need for thromboprophylaxis. The objective of this article is to present 4 clinical scenarios that illustrate common clinical challenges and to propose strategies for managing bleeding, thrombosis, surgery, and pregnancy.
定量纤维蛋白原异常，包括无纤维蛋白原血症和低纤维蛋白原血症，分别由纤维蛋白原完全缺失或减少来定义。诊断基于纤维蛋白原活性和抗原水平的测定，这些指标决定了这种单基因疾病的严重程度。无纤维蛋白原血症是致病突变纯合子或复合杂合子的结果，而单等位基因突变则导致低纤维蛋白原血症。出血表型根据纤维蛋白原水平而有所不同，一般从无纤维蛋白原血症中频繁且常危及生命的出血到无症状，或轻度低纤维蛋白原血症中的轻度出血症状。定量纤维蛋白原异常的主要治疗方法是补充纤维蛋白原。尽管纤维蛋白原水平较低，但血栓形成倾向是这些疾病的一个特征，补充纤维蛋白原可能会加剧这种倾向。手术和妊娠的管理在纤维蛋白原替代量和血栓预防需求方面面临重大挑战。本文的目的是介绍4个临床病例，说明常见的临床挑战，并提出处理出血、血栓形成、手术和妊娠的策略。
