Inherited Abnormalities of Fibrinogen Clinical Presentation

Updated: Dec 06, 2018
  • Author: Suchitra S Acharya, MD, MBBS; Chief Editor: Cameron K Tebbi, MD  more...
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Presentation

History

In afibrinogenemia, with fibrinogen levels less than 0.1 g/L, bleeding manifestations range from mild to severe. [15, 7] Umbilical cord hemorrhage frequently provides an early alert to the abnormality. Factor XIII deficiency is the other congenital bleeding diathesis typically associated with umbilical cord bleeding. Other bleeding manifestations include the following:

  • Epistaxis and oral mucosal bleeding

  • Hemarthrosis and muscle hematoma

  • GI bleeding

  • Menorrhagia and postpartum hemorrhage

  • Traumatic and surgical bleeding

  • Spontaneous splenic rupture and intracranial hemorrhage (rare) [16]

In patients with hypofibrinogenemia, bleeding episodes are usually mild, and, in many cases, no spontaneous clinical bleeding is present; bleeding may occur following trauma or surgery. [15, 7]

Afibrinogenemia and hypofibrinogenemia can be associated with thrombosis. Afibrinogenemia and hypofibrinogenemia can be associated with recurrent spontaneous abortion.

Patients with dysfibrinogenemia may experience hemorrhage or thrombosis, but most are asymptomatic. [17] In a study of 250 cases of dysfibrinogenemia, 55% involved no symptoms, with detection occurring by chance, while 25% had bleeding tendency, and 20% tended toward thrombosis. [12]  Dysfibrinogenemia has also been associated with poor wound healing, wound dehiscence, and spontaneous abortion. Skin necrosis and, less commonly, arterial thromboses have also been described. Only 0.8% of patients with a history of venous thrombosis have dysfibrinogenemia. A high incidence of thrombosis and spontaneous abortion is seen in women with history of thrombophilic dysfibrinogenemia. [12]