This is an inherited condition that develops as the result of a problem with the factor XI. Blood is transported throughout the body in a complex system of blood vessels and when one of them is damaged, the blood leaks. The clotting or the coagulation process occurs to stop the bleeding by the accumulation of various components to form a plug at the damaged site. When any component of the coagulation factor is either absent or not working effectively, the bleeding may continue or take longer for the vessel to completely seal. This can result in extensive blood loss. This condition occurs when the factor XI is either insufficiently produced or not effectively functioning and as the result, the blood clot does not form.
Causes
Factor XI deficiency is transmitted to the child from the parent at conception. This occurs as the result of genetic abnormality known as mutation. It is estimated that different types of genetic mutation may be the cause of factor XI deficiency. When individuals inherit two defective copies of the genes, one from each parent, they tend to experience a severe form of the disorder than those who only inherit one mutated gene.
Symptoms
Most of these affected individuals may not develop any symptoms. However, the amount of factor XI deficiency in the blood does not relate to the severity of bleeding episodes and tends to vary among the cases. The amount of factor deficiency in the individual’s blood and the severity of the condition remain unclear. However, individuals with the mild deficiency of factor XI can exhibit severe bleeding loss. Some of the common symptoms of this condition include nosebleeds, abnormal bleeding with childbirth or surgery and easy bruising. Additional symptoms can include bleeding in the stomach, bleeding after dental surgery and presence of blood in the urine. Women appear to experience more specific problems associated with the gynecological and obstetrical reasons such as excessive bleeding after menstruation, spontaneous abortion and heavy menstrual flow.
Diagnosis
This condition is usually diagnosed when suspected of abnormal bleeding or prior to surgery. The coagulation tests are done to measure the time it takes for the clot to form. When the clotting anomaly is identified, the measurement of the coagulation factors will be done which can indicate if the clotting factor XI is low.
Treatment
There are various treatment options available for different types of bleeding conditions. Some of these include the fresh frozen plasma but has the potential of HIV and hepatitis transmission, factor XI concentrate and hormone therapy administered as birth control pills or intra-uterine devices to protect against heavy menstrual bleeding in women.
References
https://www.wfh.org/en/page.aspx?pid=660
