Dysfibrinogenemia Clinical Presentation

Updated: Feb 11, 2019
  • Author: Russell Burgess, MD; Chief Editor: Perumal Thiagarajan, MD  more...
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Presentation

History

Acquired dysfibrinogenemia is more likely to present as bleeding than as thrombosis. Patients with acquired dysfibrinogenemia often have no history of bleeding or clotting, and family history is not significant for hematological events. [2]  

Clinical manifestations of dysfibrinogenemia are heterogeneous, ranging from absence of symptoms to major bleeding or thrombosis, chronic thromboembolic pulmonary hypertension, and renal amyloidosis. [8]

 In a review of 101 patients with congenital dysfibrinogenemia by Casini and colleagues, the cumulative incidence rate of major bleeding was determined to be 19.2%, and cumulative incidence rate for thrombotic events was determined to be 30.1%. [7]

Bleeding is usually mild and may not manifest until after a surgical procedure. Patients with severe liver disease may experience extreme bleeding. Bleeding may involve the following:

  • Postoperative bleeding
  • Postoperative wound dehiscence
  • Defective wound healing
  • Bruising
  • Severe hemorrhage (rare)
  • Mild soft-tissue hemorrhage

Thrombotic events that may occur include the following:

Combined bleeding and thrombotic tendencies are extremely rare and associated only with congenital dysfibrinogenemias.

In female patients with congenital afibrinogenemia, recurrent massive intraabdominal bleeding due to rupture of Graafian follicle during ovulation has been described. 

Another rare manifestation of dysfibrinogenemia is hereditary renal amyloidosis, in which the amyloid fibril consists of abnormal fibrinogen fragments. These cases are associated with obliterative glomerular lesions. The mutations are clustered around the aminoterminal end of the α chain.

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Physical Examination

Although many patients with inherited dysfibrinogenemia remain asymptomatic, signs that arise tend to be associated with poor wound healing, surgical wound dehiscence, and postsurgical bleeding out of proportion to that expected.

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