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.
Skip Nav Destination
Review Article|
December 19, 2024
How I treat quantitative fibrinogen disorders
Alessandro Casini
Hôpitaux Universitaire de Genève, Geneva, Switzerland
* Corresponding Author; email: alessandro.casini@hug.ch
Search for other works by this author on:
Blood blood.2024025712.
Article history
Submitted:
August 2, 2024
Revision Received:
November 12, 2024
Accepted:
November 14, 2024
Citation
Alessandro Casini; How I treat quantitative fibrinogen disorders. Blood 2024; blood.2024025712. doi: https://doi.org/10.1182/blood.2024025712
Download citation file:
My Account
Sign InAdvertisement intended for health care professionals
Cited By
Advertisement intended for health care professionals
This feature is available to Subscribers Only
Sign In or Create an Account Close Modal