Afibrinogenemia is a very rare blood disorder in which the patient is born with little or no fibrinogen in the circulating blood.
Afibrinogenemia is a occasional congenital blood disorder in which the blood does not coagulation normally due to a lack of or a malfunction involving fibrinogen, a protein necessary for coagulation. It occurs when you are missing or have a problem with a protein called fibrinogen, which is needed for the blood to clot. The main risk factor is a family history of bleeding disorders. Easy bruising, nose and mouth bleeds, and soft tissue bleeds are also common in afibrinogenemia. Joint bleeding is relatively uncommon. Women with afibinogenemia have an increased risk of spontaneous abortion. Persons with dysfibrinogenemia may have a disposition to thrombosis. Other symptoms of Afibrinogenemia may be severe bleeding afterminor trauma, the loss of baby teeth, or during the extraction of teeth.
This uncommon disorder is caused by an abnormal gene that must be passed down from both parents. There may be either a lack of fibrinogen or a defect in the functioning of available fibrinogen. Fibrinogen is a protein that is needed to form blood clots. When this protein is absent, the blood does not coagulate which can cause the patient to hemorrhage. Two thirds of the patients with Afibrinogenemia have bleeding problems from infancy on. Bleeding in the brain is a leading cause of death in patients with this disorder. There is no known prevention. Couples who are thinking about having children may find genetic counseling helpful if at least one partner has this condition.
People with this condition should have the hepatitis B vaccine because transfusion increases the risk of hepatitis. Diagnosis is made by measuring the amount of fibrinogen in the blood, prothrombin time test, activated partial thromboplastin time test, and thrombin clotting time test. FFP may be given, but cryoprecipitate is used more often to avoid volume overload. Patients may receive the liquid portion of the blood or a blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion) to treat bleeding episodes or to prepare for surgery to treat other conditions. Excess bleeding is common with this condition. These episodes may be severe, or even fatal.
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