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 four clinical scenarios that illustrate common clinical challenges and to propose strategies for managing bleeding, thrombosis, surgery, and pregnancy.

中文翻译：

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我如何治疗定量纤维蛋白原疾病。


定量纤维蛋白原疾病，包括纤维蛋白原血症和低纤维蛋白原血症，分别定义为纤维蛋白原完全缺失或减少。诊断基于纤维蛋白原活性和抗原水平的测量，这些水平定义了这种单基因疾病的严重程度。纤维蛋白原血症是致病突变的纯合性或联合杂合性的结果，而单等位基因突变导致低纤维蛋白原血症。出血表型根据纤维蛋白原水平而变化，通常从纤维蛋白原血症中的频繁且经常危及生命的出血到轻度低纤维蛋白原血症中无症状或轻度出血症状。定量纤维蛋白原疾病的主要治疗方法是纤维蛋白原补充。尽管纤维蛋白原水平低，但血栓形成的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情况。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提出了重大挑战。本文的目的是提出四种临床情景，说明常见的临床挑战，并提出管理出血、血栓形成、手术和妊娠的策略。