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Definition of Afibrinogenemia
Afibrinogenemia is a rare inherited blood disorder in which the blood does not clot normally due to a lack of or a malfunction involving fibrinogen, a protein necessary for coagulation.
Symptoms of Afibrinogenemia
The medical symptoms that can be associated with congenital afibrinogenemia includes bleeding umbilical cord , bruises, hematomas, hemopthysis, blood in the urine, hemorrhage in central nervous system, excessive bleeding after an injury, nosebleed, impaired blood clotting, prolonged bleeding time.
Causes of Afibrinogenemia
This rare disorder is primarily caused by an atypical gene that has been passed on to the child from both parents. This will result to either oa defect in the proper function of available fibrinogen, or lack of fibrinogen in the body. This condition is known to occur in both sexes and primary candidates and people from a family with a history of bleeding.
Diagnosis of Afibrinogenemia
If the medical provider suspects some type of bleeding disorder, several laboratory tests can significantly help in determine the extent and type of disease. Tests that could help in the assessment include PTT, fibrinogen levels, reptilase time, bleeding time, thrombin time and clotting time.
Treatment of Afibrinogenemia
Patients may be give blood transfusion containing plasma or cryoprecipitate, or the blood that contains the concentrated form of fibrinogen. Patients with such condition is also required to be have hepatitis B vaccine as in condition tend to increase the risk of contracting hepatitis due to the transfusion of blood.
Prognosis of Afibrinogenemia
Afibrinogenemia is an incurable, lifelong condition. Individuals have a high incidence of hemorrhaging episodes. Bleeding, particularly intracranial bleeding, is a common cause of death. With care and fibrinogen replacement therapy, however, life expectancy is normal.
Prevention of Afibrinogenemia
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.
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