Afibrinogenemia

Afibrinogenemia, also called congenital afibrinogenemia, is a rare autosomal recessive inherited blood disorder due to deficiency of the clotting protein fibrinogen. The disorder is associated with increased risk of spontaneous hemorrhage1.

Afibrinogenemia has an estimated prevalence of one in 1,000,000 2,3. It is characterized by the complete absence or reduced amounts of immunoreactive fibrinogen as measured by antigenic and functional assays (less than 0.1 g/L whereas the normal range is 2 to 4 g/L) 4.

Symptoms usually begin to show at birth with umbilical cord bleeding 5. The most common clinical symptoms are mucocutaneous, soft tissue, joint, intracranial and genitourinary bleeding. This bleeding may be spontaneous, traumatic or postsurgical 6. Excessive menstrual bleeding and spontaneous abortions in women have been seen 7,8,11. Rarely splenic rupture has been reported.

Imaging findings relate to the presence of hemorrhage 9,10:

Supportive treatments including transfusions, fibrinogen administration, repeated packing surgeries and selective embolization, may be successful 1.

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Article information

rID: 75273
Synonyms or Alternate Spellings:
  • Congenital afibrinogenemia

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