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Congenital afibrinogenemia is a bleeding disorder caused by a blood clotting disorder. Normally, blood clots protect the body after an injury by blocking damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in patients with congenital afibrinogenemia. Newborns with this condition often have prolonged bleeding from the umbilical cord stump after birth. Nosebleeds and bleeding from the gums and tongue are common and can occur without minor trauma or injury (spontaneous bleeding). Some people bleed between their joints and into their muscles. Rarely, bleeding into the brain or other internal organs can be fatal. Women with congenital afibrinogenemia may have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, women with this condition may have difficulty getting pregnant and have repeated miscarriages.

Afibrinogenemia is a rare blood clotting disorder with an estimated prevalence of 1: 1,000,000. It is an autosomal recessive disease caused by mutations in one of the three genes encoding the three polypeptide chains of fibrinogen located on the long arm of chromosome 4. Spontaneous bleeding, bleeding after minor trauma, and excessive bleeding during interventional procedures are the main symptoms. Replacement therapy is the mainstay of management of bleeding episodes in these patients, with plasma-derived fibrinogen concentrate being the drug of choice. Cryoprecipitate and fresh frozen plasma are alternative treatments that should only be used when fibrinogen concentrate is not available. Secondary preventive treatment can be considered after life-threatening bleeding, but primary preventive treatment is currently not recommended. We also discuss alternative treatment options and management of surgery, pregnancy, and thrombosis in these patients. New tests to identify at-risk patients and the development of safer replacement therapies will improve the treatment of afibrinogenemia in the future.