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Factor XI Deficiency, Congenital



Factor XI Deficiency, Congenital Causes


The deficiency is caused by mutations in coagulation Factor XI. There are several mutations present, and bleeding risks isn't always subjective to how severe the deficiency is. The deficiency also has ‘autosomal dominant inheritance'.


Factor XI Deficiency, Congenital Definition


Factor XI Deficiency, Congenital -is an uncommon hereditary bleeding disorder that involves a deficiency in blood protein Factor XI. This blood protein is required for the process of blood clotting. The disorder is typically mild, but its severity is variable. Factor XI deficiency may initially manifest as ‘incidental laboratory abnormality', which may show as early as circumcision or much later during possible surgery.


Factor XI Deficiency, Congenital Diagnosis


If a doctor suspects a bleeding disorder, several tests are done. Some tests include factor XI assay, partial thromboplastin time, bleeding time, and others.


Factor XI Deficiency, Congenital Symptoms and Signs


There are two common symptoms of the deficiency: bleeding after surgery and slightly lengthened clotting time. Some other bleeding symptoms include bruising, bloody stool, blood present in urine, nosebleeds, bleeding gums, gastrointestinal bleeding, rectal bleeding, and other types. The severity of bleeding can vary from small injury hemorrhage, mild local bleeding, to massive hemorrhage.


Factor XI Deficiency, Congenital Treatment


Treatment isn't typically necessary, except when it's in connection to operations in individuals who aren't aware that they have the deficiency. In such cases, recombinant factor XI or fresh frozen plasma can be used, however, only when it's necessary. Four treatments re used to prevent or control bleeding in affected individuals, including FFP or fresh frozen plasma, factor XI concentrates, fibrin glue, and antifibrinolytic drugs.


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