How I treat quantitative fibrinogen disorders

被引：0
作者：
Casini, Alessandro [1 ,2 ]
机构：
[1] Univ Hosp Geneva, Div Angiol & Hemostasis, Rue Gabrielle Perret Gentil 4, CH-1205 Geneva, Switzerland
[2] Univ Geneva, Fac Med, Dept Med, Geneva, Switzerland
来源：
BLOOD | 2025年 / 145卷 / 08期
关键词：
RARE COAGULATION DISORDERS; CONGENITAL AFIBRINOGENEMIA; REPLACEMENT THERAPY; BLEEDING DISORDERS; MOLECULAR-BASIS; CONCENTRATE; MANAGEMENT; THROMBOSIS; PATIENT; SAFETY;
D O I：
10.1182/blood.2024025712
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：801 / 810
页数：10
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