Its incidence is estimated at 1 in 100,000 in the general population. Four novel compound heterozygosities were identified. Seligsohn u, zivelin a, salomon o seligsohn, uri, et al. Most commonly inherited as an autosomal recessive trait an autosomal dominant pattern of inheritance is possible, as the dimeric structure of factor xi may result in a dominant negative effect through intracellular heterodimer formation blood 2004. Spontaneous bleeding is rare in factor xideficient patients. Hereditary factor xi deficiency disease conditions gtr ncbi.
Factor xi deficiency, which is also listed as hemophilia c, happens when a person has mutated f11 genetics. In the intrinsic coagulation cascade, factor xii acts as an initiating step orchestrating enzymatic conversion of factor xi to activated factor xia 7, 8. Deficiency of the plasma protein factor xi fxi may be associated. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in infancy. Factor xii deficiency is rarely associated with any symptoms asymptomatic. The c56r mutation associated with factor xi deficiency as a marker of human migration during the spanish reconquista author links open overlay panel f. This disorder is one of the worlds most rare factor deficiencies. Feb 05, 2016 factor xi deficiency is a bleeding disorder that interferes with the bodys clotting process. Fxi deficiency should therefore not be described as a recessive disorder which implies an asymptomatic carrier state in individuals with a single mutation. Treatment of factor xi deficiency is a challenge, because administration of fresh. Congenital factor xi deficiency sometimes called hemophilia c is an autosomal disorder with a recessive pattern of inheritance and is particularly common in ashkenazi jews in whom two specific mutations account for the approximately 8% prevalence of an abnormal factor xi gene. Factor xi 11 deficiency is also known as hemophilia c and is the most common of the rare bleeding disorders and the second most common bleeding disorder. Factor xi or plasma thromboplastin antecedent is the zymogen form of factor xia, one of the enzymes of the coagulation cascade.
Factor xii deficiency nord national organization for rare. We experienced a colon cancer patient with congenital xi factor deficiency who was successfully treated by laparoscopic approach with the administration of the preoperative. Factor xi gene mutations inherited factor xi deficiency f11d. Women with factor xi deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. Factor xi deficiency carrier dna tests best dna tests. Factor x deficiency can also be acquired and it is more prevalent than the congenital variant. Inheritance is autosomal with expression in both males and females. Factor xi deficiency genetic and rare diseases information. Factor xi deficiency haemophilia foundation australia. Other terms for this disorder include plasma thromboplastin antecedent pta deficiency, rosenthal syndrome, and hemophilia c see image below. Oct 30, 2019 factor xi fxi deficiency is an autosomal disorder that may be associated with bleeding. The information contained on this web site is provided for research purposes only.
However, regardless of the severity of the protein deficiency, most affected individuals have relatively mild. However, up to onethird of people with factor vii deficiency never have any bleeding problems. Male and also women are equally likely to be carriers or to suffer from element xi shortage. It was first reported that individuals with factor xi deficiency can have a. An autosomal dominant pattern of inheritance is possible, as the dimeric structure of factor xi may result in a dominant negative effect through intracellular heterodimer formation blood 2004.
Hereditary factor x deficiency hereditary f10 deficiency. Factor xi triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor ix. Neonatal bleeding is not described unless provoked by surgery e. In the past two decades, more than 180 mutations in the fxi gene have been reported in patients with fxi deficiency, five of which show a founder effect cys38arg, gln88stop, cys128stop, glu117stop, and phe283leu, the last two largely prevalent among ashkenazi jews. However, when blood from a patient is subjected to a partial thromboplastin time test ptt, a test measuring clotting time, it takes an abnormally long time for the blood to clot. The ratio of factor xi coagulant activity to factor xi antigen was 0. Factor xi deficiency is an autosomal bleeding disorder characterized by reduced levels of factor xi in plasma less than 15 iudl. Its with great sadnessand heavy heartsthat we must inform you that the world federation of hemophilia has taken the difficult, but necessary, decision to cancel the wfh 2020 world congress planned to take place in kuala lumpur, malaysia, from june 14 to 17, 2020.
Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Factor xi deficiency is particularly prevalent in the ashkenazi jewish population, with a heterozygote frequency of about 8%. Factor xi fxi deficiency is an autosomal disorder that may be associated with. Like many other coagulation factors, it is a serine protease. Factor xi deficiency was first described in the medical literature in 1953. Factor xii deficiency is a deficiency in the production of factor xii fxii, a plasma glycoprotein and clotting factor that participates in the coagulation cascade and activates factor xi. F11 coagulation factor xi precursor homo sapiens human. Fxii appears to be not essential for blood clotting, as individuals with this condition are usually asymptomatic and form blood clots in vivo. Pattern of inheritance rare coagulation disorders rare. The bleeding history is variable and ranges from menorrhagia to.
Factor xi deficiency is an autosomal bleeding disorder characterized by. Factor xi fxi deficiency, also known as haemophilia c, is an inherited bleeding disorder. If you find this website useful, please reference our publication, saunders et al, 2005. Coagulation factor xi fxi is a coagulation protein essential to normal hemostasis and acts by cleaving factor ix fix in the intrinsic blood coagulation pathway. Factor xi deficiency nord national organization for. Although fxi deficiency is sometimes described as a recessive disorder, several observations show that the bleeding risk is not closely related to the factor level. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Factor x deficiency genetic and rare diseases information. Feb 18, 2020 factor x deficiency is a bleeding disorder that can be inherited or acquired.
A successful case of laparoscopic colorectal cancer resection. Two siblings had this combined defect, and a third was only affected with mild depression of factor viii coagulant activity. Factor xi deficiency is an autosomal recessive disorder most commonly seen in ashkenazi jews. Clinically, there are few spontaneous hemorrhages, which can cause abnormal bleeding after trauma, surgery, and tooth extraction. Inherited deficiencies of coagulation factors ii, v, vii, x, xi, and xiii and combined deficiencies of factors v and viii and of the vitamin kdependent factors. When genetic and surname analyses meet historical sources. It is caused when a persons body doesnt produce enough of protein in the blood factor xi that helps blood clot or the factor xi doesnt work properly.
Two pathogenic variants are common among individuals of ashkenazi jewish descent. 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. A hemorrhagic disease characterized by reduced levels and activity of factor xi resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Factor xi deficiency and its management 3 clinical picture and inheritance fxi deficiency is distinguished clinically from hemophilia a and b by the absence of spontaneous bleeding into joints and muscles and by its occurrence in individuals of either sex. Mar 24, 2020 wfh 2020 world congress update march 24, 2020. Factor xii deficiency is a deficiency in the production of factor xii, a plasma glycoprotein and clotting factor that participates in the coagulation cascade and activates factor xi. Inherited factor x deficiency is autosomal recessive, with heterozygotes most often remaining asymptomatic or having only a mild bleeding tendency. Factor xi deficiency aninheritedbleedingdisorder 10 symptoms forreasonsthatarestillunknown,thetendencytobleedisnot. Factor xi deficiency nord national organization for rare.
Jan 22, 2019 acquired noninherited factor x deficiency, which is the most common form of the disorder, generally occurs in people with no family history of the disorder. Factor xi deficiency is a bleeding disorder that interferes with the bodys clotting process. It used to be also referred to as hemophilia c in order to distinguish it from the better known hemophilia types a and b. In rare cases, factor xi deficiency can be acquired during life acquired factor xi deficiency. The bovine form of the disease was first discovered in holstein cattle in ohio in 1969.
Heterozygous factor xi deficiency associated with three novel mutations. Acquired factor x deficiency has a variety of causes including liver disease, vitamin k deficiency, exposure to certain medications that affect clotting, and certain types of cancer. Fxi deficiency may present at any age and even patients with major deficiency may be diagnosed late in life. This condition is classified as either partial or severe based on the degree of deficiency of the factor xi protein. Factor xi deficiency is a rare autosomal recessive disease, which is the result of the mutation of the f11 located on chromosome 4. Factor xi is produced by the liver and is part of a chain of clotting factor responsible for stopping bleeding by forming a clot after an injury or surgery. An inherited deficiency of factor xi results in a bleeding disorder that has been documented in humans, dogs, and cattle. May 22, 2019 congenital xi factor deficiency is a rare disease caused by autosomal recessive inheritance. Factor xi deficiency is a rare genetic bleeding disorder caused by reduced levels and insufficient activity of a blood protein called factor xi.
Deficiency of fxi, known as hemophilia c, is known for variability in bleeding phenotype. In vitro evaluation of factor ix as novel treatment for factor xi deficiency. Severe factor xi fxi deficiency is an injuryrelated bleeding disorder common in ashkenazi jews and rare worldwide. Hereditary factor x deficiency is an inherited coagulation disorder with an autosomal recessive transmission, resulting from a deficiency of factor x. Clotting factors are specialized proteins that are essential for proper clotting, the process by which blood solidifies like glue to plug the site of a wound to stop bleeding.
Factor vii deficiency is a rare bleeding disorder that varies in severity among affected individuals. Congenital factor xi fxi deficiency, which is inherited as an autosomal recessive. Saunders et al analyzed 8 novel and 112 previously reported. Factor xi fxi deficiency, also called hemophilia c, plasma thromboplastin antecedent deficiency and rosenthal syndrome, was first recognized in 1953 in patients who experienced severe bleeding after dental extractions.
Four novel fxi gene mutations in three factor xi deficient patients. Fxii deficiency tends to be identified during presurgical. Clinical presentation rare coagulation disorders rare. Factor xi fxi deficiency is a rare inherited coagulation disorder characterized by infrequent spontaneous bleeding, but increased risk of hemorrhagic complications especially after trauma or. Although majority is autosomal recessive as a result of spontaneous mutation, but autosomal dominant inheritance is also reported in the literature. Unlike haemophilia a or b, there is no bleeding into joints and muscles.
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