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.

Epidemiology

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.

Clinical presentation

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.

Radiographic features

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

• recurrent extradural and intracerebral hemorrhage
• joint bleeding (hemarthrosis)
• muscle hematoma
• interosseous hemorrhage
• intramedullary cyst with hemorrhage, especially in long bones

Treatment and diagnosis

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