Factor XI deficiency is a disorder that can cause abnormal bleeding due to a shortage (deficiency) of the factor XI protein, which is involved in blood clotting. This condition is classified as either partial or severe based on the degree of deficiency of the factor XI protein. However, regardless of the severity of the protein deficiency, most affected individuals have relatively mild bleeding problems, and some people with this disorder have few if any symptoms. The most common feature of factor XI deficiency is prolonged bleeding after trauma or surgery, especially involving the inside of the mouth and nose (oral and nasal cavities) or the urinary tract. If the bleeding is left untreated after surgery, solid swellings consisting of congealed blood (hematomas) can develop in the surgical area.
Most cases of factor XI deficiency are caused by mutations in the F11 gene, which provides instructions for making the factor XI protein. This protein plays a role in the coagulation cascade, which is a series of chemical reactions that forms blood clots in response to injury. After an injury, clots seal off blood vessels to stop bleeding and trigger blood vessel repair.
Factor XI deficiency is estimated to affect approximately 1 in 1 million people worldwide. The severe deficiency disorder is much more common in people with central and eastern European (Ashkenazi) Jewish ancestry, occurring in about 1 in 450 individuals in that population. Researchers suggest that the actual prevalence of factor XI deficiency may be higher than reported, because mild cases of the disorder often do not come to medical attention.
Severe factor XI deficiency is passed down in an autosomal recessive pattern, which means both copies of the F11 gene in each cell have mutations. The parents of these individuals each carry one copy of the mutated gene and have partial factor XI deficiency; they rarely show severe signs and symptoms of the condition.
Ophira Salomon is in Ramat Gan, Israel. Salomon is rated as an Elite expert by MediFind in the treatment of Factor 11 Deficiency. They are also highly rated in 4 other conditions, according to our data. Their top areas of expertise are Factor 11 Deficiency, Blood Clots, Mesenteric Venous Thrombosis, and Prothrombin Deficiency.
Paula Maggs-Bolton is in Manchester, United Kingdom. Maggs-Bolton is rated as an Elite expert by MediFind in the treatment of Factor 11 Deficiency. She is also highly rated in 11 other conditions, according to our data. Her top areas of expertise are Factor 11 Deficiency, Hemolytic Transfusion Reaction, Blood Clots, and ADULT Syndrome.
Frederic Bauduer is in Bayonne, France. Bauduer is rated as an Elite expert by MediFind in the treatment of Factor 11 Deficiency. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Factor 11 Deficiency, Secondary Immunodeficiency, Blood Clots, and Isolated Growth Hormone Deficiency.
Published Date:updated Last, August
Published By: National Institutes of Health