What is Afibrinogenemia

Afibrinogenemia is a rare inherited bleeding disorder characterized by the absence or severe deficiency of fibrinogen, a protein essential for blood clotting. Individuals with afibrinogenemia have a significantly increased risk of excessive bleeding, both internally and externally, due to the inability of their blood to form clots properly.

The condition is caused by mutations in one of the three genes responsible for producing fibrinogen. These mutations disrupt the normal production or function of fibrinogen, leading to its absence or reduced levels in the blood.

Common symptoms of afibrinogenemia include spontaneous bleeding, nosebleeds, easy bruising, prolonged bleeding after injury or surgery, and heavy or prolonged menstrual periods in females. In severe cases, life-threatening bleeding into vital organs or the brain can occur.

Treatment for afibrinogenemia typically involves replacement therapy with fibrinogen concentrates or cryoprecipitate, which provide the missing protein to help control bleeding episodes. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and potential risks.