en
Scientific article
Open access
English

How I treat dysfibrinogenemia

Published inBlood, vol. 138, no. 21, p. 2021-2030
Publication date2021-11-25
First online date2021-04-25
Abstract

Congenital dysfibrinogenemia (CD) is caused by structural changes in fibrinogen that modify its function. Diagnosis is based on discrepancy between decreased fibrinogen activity and normal fibrinogen antigen levels and is confirmed by genetic testing. CD is caused by monoallelic mutations in fibrinogen genes that lead to clinically heterogenous disorders. Most patients with CD are asymptomatic at the time of diagnosis, but the clinical course may be complicated by a tendency toward bleeding and/or thrombosis. Patients with a thrombosis-related fibrinogen variant are particularly at risk, and, in such patients, long-term anticoagulation should be considered. Management of surgery and pregnancy raise important and difficult issues. The mainstay of CD treatment remains fibrinogen supplementation. Antifibrinolytic agents are part of the treatment in some specific clinical settings. In this article, we discuss 5 clinical scenarios to highlight common clinical challenges. We detail our approach to establishing a diagnosis of CD and discuss strategies for the management of bleeding, thrombosis, surgery, and pregnancy.

eng
Keywords
  • Afibrinogenemia / complications
  • Afibrinogenemia / diagnosis
  • Afibrinogenemia / therapy
  • Disease Management
  • Female
  • Hemorrhage / etiology
  • Hemorrhage / therapy
  • Humans
  • Pregnancy
  • Pregnancy Complications, Hematologic / diagnosis
  • Pregnancy Complications, Hematologic / therapy
  • Thrombosis / etiology
  • Thrombosis / therapy
Citation (ISO format)
CASINI, Alessandro, DE MOERLOOSE, Philippe. How I treat dysfibrinogenemia. In: Blood, 2021, vol. 138, n° 21, p. 2021–2030. doi: 10.1182/blood.2020010116
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Article (Published version)
Identifiers
ISSN of the journal0006-4971
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225downloads

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