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Therapeutic Areas and Products
Hematology
Fibrinogen Deficiency
Overview
Fibrinogen deficiency: Caused by an absence/low levels of fibrinogen or dysfunctional fibrinogen.
May lead to bleeding or clotting events
Fibrinogen deficiency can be inherited (congenital) or acquired.
Two types of congenital fibrinogen deficiency:
- Type I deficiencies (quantitative abnormalities): Afibrinogenemia or Hypofibrinogenemia
- Type II deficiencies (qualitative abnormalities): Dysfibrinogenemia
Congenital fibrinogen deficiencies affect males and females equally.
Types of Congenital Fibrinogen Deficiency
| Type I (quantitative abnormalities) | Type II (qualitative abnormalities) | |
|---|---|---|
| Afibrinogenemia | Hypofibrinogenemia | Dysfibrinogenemia |
| Complete absence of fibrinogen | Less than normal plasma fibrinogen levels | Normal or low-normal plasma finbrinogen levels |
| Increased bleeding, both spontaneous and traumatic | Bleeding largely associated with trauma or surgery (80%) | Largely asymptomatic (~50%), traumatic bleeding events |
| Most severe form of congenital fibrinogen deficiency | ||
| Accounts for 8-9% of all rare bleeding disorders | ||
Clinical Presentation
Bleeding manifestations in afibrinogenemia can range from mild to severe and can include:
- Nosebleeds
- Oral bleeding
- Joint and muscle bleeding
- Gastrointestinal bleeding
- Heavy menstrual bleeding
- Traumatic and surgical bleeding
In hypofibrinogenemia, bleeding episodes are usually mild; bleeding generally occurs following trauma or surgery.
Management
Patients with congenital fibrinogen deficiency experiencing bleeding utilize fibrinogen replacement therapy to increase plasma fibrinogen levels.
Options for treatment include cryoprecipitate, fresh frozen plasma and fibrinogen concentrate.
| Cryoprecipitate | Fresh frozen plasma | Fibrinogen concentrate | ||
|---|---|---|---|---|
| Standardised fibrinogen content | No | No | Yes | |
| Volume to be infused | Medium | Large | Small | |
| Undergoes virus inactivation, eg. pasteurisation | Not Always | Not Always | Yes | |
| Thawing (leading to a delay in time to infusion) | Yes | Yes | No | |
| Blood matching | Yes | Yes | No |
1. Asselta R, Duga S, Tenchini M. Molecular basis of quantitative fibrinogen disorders. J Thromb Haemost. 2006;4(10):2115-2129. 2. Figure source: https://ib.bioninja.com.au/standard-level/topic-6-human-physiology/63-defence-against-infectio/clotting.html 3. Peyvandi F, Haertel S, Knaub S, Mannucci PM. Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypfibrinogenemia. J Thromb Haemost. 2006;4(7):1634-1637. 4. Bevan et al. Fibrinogen replacement therapy. Thromb Res. 2009;124 Suppl 2:S12-516.