kongenitale Afibrinogenämie

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 hemorrhage.

Epidemiology

Afibrinogenemia has an estimated prevalence of one in 1,000,000 . 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) .

Clinical presentation

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

Radiographic features

Imaging findings relate to the presence of hemorrhage :

• 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 .

Siehe auch:

• Knochenzyste

und weiter:

• eingeblutete Knochenzysten