Factor XI deficiency has a more variable
bleeding tendency than
haemophilia A or B. Individuals with severe deficiency have only a mild
bleeding tendency, which is typically provoked by surgery, but the risk of
bleeding is not restricted to individuals with severe deficiency. The
bleeding tendency varies between individuals with similar
factor XI levels, and sometimes the
bleeding tendency of an individual may vary. The reasons for this are not fully understood, although in cases of severe deficiency there is some correlation between phenotype and genotype.
Factor XI is activated by
thrombin. The role of
factor XI in physiological processes has become clearer since this fact was discovered, and the discovery has contributed to a revised model of blood coagulation.
Factor XI deficiency occurs in all racial groups, but is particularly common in Ashkenazi Jews. The
factor XI gene
is 23 kilobases long. Two mutations are responsible for most
factor XI deficiency in the Ashkenazi population, but a number of other mutations have now been reported in other racial groups. Individuals with
factor XI deficiency may need specific
therapy for surgery, accidents, and dental extractions. Several
therapies are available which include fresh frozen plasma,
factor XI concentrates,
fibrin glue,
antifibrinolytic drugs, and
desmopressin. Each has advantages and risks to be considered.
Factor XI concentrate may be indicated for procedures with a significant risk of
bleeding especially in younger patients with severe deficiency, but its use in older patients has been associated with thrombotic phenomena. If fresh frozen plasma is to be used it is preferable to obtain one of the virally inactivated products.
Fibrin glue is a useful treatment which deserves further study.