Severe factor xi deficiency hemophilia c is a rare coagulation disorder. 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. The dose is repeated every 48 to 72 hours depending on measured factor xi levels. Factor xi deficiency is usually diagnosed because a patient has a family member with the disease. Severe factor xi fxi deficiency is an injuryrelated bleeding disorder, common in ashkenazi jews with two mutations prevailing, but rare worldwide with heterogeneous mutations. How effective and safe is factor xi inhibition in preventing. A successful case of laparoscopic colorectal cancer resection. Pdf factor xi deficiency is a hemorrhage disorder which can be either autosomal recessive orand autosomal. Factor xi deficiency aninheritedbleedingdisorder 7 theclottingmechanism bloodiscarriedthroughoutthebodyinasystemofbloodvessels. Novoseven, novo nordisk, bagsvaerd, denmark and the anti. Factor xi deficiency is a rare disease found predominantly in ashkenazi jews. Inherited factor xi deficiency can be categorized as severe or partial based on the factor xi activity. A study of 20 jewish and four nonjewish kindreds transmitting factor xi deficiency 164 individuals confirmed inheritance to be autosomal with severe deficiency in.
Factor xi deficiency is the only contact phase protein defect that causes a bleeding disorder in animals, which can be. A later study distinguished between individuals with major and minor deficiencies represented by factor xi levels of less than 20 udl and 30 to 65 udl. Severe deficiency factor xi activity factor xi fxi deficiency results in a mild bleeding disorder and is a serine protease that is produced in the liver. Association with hemophilia factor xi deficiency in a football player 237. In rare cases, factor xi deficiency can be acquired during life acquired factor xi deficiency. Factor xi deficiency haemophilia foundation australia. The deficiency was manifested by an isolated prolonged activated partial thromboplastin time aptt after surgery.
Factor xi deficiency was first described in the medical literature in 1953. Factor xi deficiency is also seen in asians, but with a phenotype that is usually so mild it may go unnoticed even in patients who are bleeders, because spontaneous bleeding is not common, as it is in other types of hemophilia. Feb 05, 2016 factor xi deficiency is a bleeding disorder that interferes with the bodys clotting process. This information sheet from great ormond street hospital gosh explains the causes, symptoms and treatment of factor xi deficiency and where to get. Congenital xi factor deficiency is a rare disease caused by autosomal recessive inheritance. A successful case of laparoscopic colorectal cancer. The ratio of factor xi coagulant activity to factor xi antigen was 0. Jennifer davila md, in transfusion medicine and hemostasis third edition, 2019. The patient presented with a severe, apparently spontaneous bleed into the thigh, which progressed despite infusion of fresh frozen plasma, but which responded promptly to activated prothrombin complex. Factor xii deficiency genetic and rare diseases information.
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. Coagulation factor xi an overview sciencedirect topics. Oct 30, 2019 factor xi fxi deficiency is an autosomal disorder that may be associated with bleeding. Article information, pdf download for factor xi deficiency and aortic.
Factor xi deficiency is an example of a biochemical genetic defect that will be amenable to accurate, rapid and inexpensive testing. Bleeding in people with factor xi deficiency is sometimes affected by other factors or may be apparent only. Although factor xi fxi deficiency has a particularly high incidence in ashkenazi jews, it is now frequently diagnosed in other ethnic groups. Ageadjusted survival function curves of patients with normal factor xi activity 50. By continuing to browse this site you are agreeing to our use of cookies. Successful perioperative management in a patient with factor.
The values of isolated prolonged activated partial thromboplastin time aptt should be a warning for factor deficiency xi. Factor xi deficiency is a bleeding disorder that interferes with the bodys clotting process. Clinically, there are few spontaneous hemorrhages, which can cause abnormal bleeding after trauma, surgery, and tooth extraction. Successful perioperative management in a patient with. Anaesthesia management of a patient with factor xi deficiency. Factor xi fxi is produced by the liver and circulates as a homodimer in its inactive form. From a survey of factor xi levels among 428 unrelated healthy ashkenazi jews, 35 had partial factor xi deficiency factor xi levels 0.
An inherited deficiency of factor xi results in a bleeding disorder that has been documented in humans, dogs, and cattle. Clinical presentation rare coagulation disorders rare. Transfer of congenital factor xi deficiency from a donor to a recipient by liver transplantation. Fxi deficiency may present at any age and even patients with major deficiency may be diagnosed late in life. Deficiency of fxi, known as hemophilia c, is known for variability in bleeding phenotype.
Its incidence is estimated at 1 in 100,000 in the general population. Congenital factor xi fxi deficiency, which is inherited as an autosomal recessive trait, 1 is a mild bleeding disorder that often goes undiagnosed. Neonatal bleeding is not described unless provoked by surgery e. In israel, factor xi deficiency has been estimated to be around 8% among ashkenazi jews, making it one of the most common genetic disorders in this group. May 22, 2019 congenital xi factor deficiency is a rare disease caused by autosomal recessive inheritance.
In the past two decades, more than 220 mutations in the fxi gene have been reported in patients with fxi deficiency, of which 7 showed a founder effect. However, regardless of the severity of the protein deficiency, most affected individuals have relatively mild. Factor xi assays in their patient were determined to be 46% and 52%. This condition is classified as either partial or severe based on the degree of deficiency of the factor xi protein. Factor xi fxi deficiency was described in three members a jewish family in the usa and was called hemophilia c to distinguish it from hemophilias a and b. Factor xi deficiency bernardsoulier syndrome platelet storage pool deficiency.
Why factor xi deficiency is a clinical concern ncbi. While a lack of factor xii does not cause affected individuals to bleed abnormally, the blood takes longer than normal to clot in a test tube. Factor xi deficiency is a rare factor deficiency, and the encoding gene is located on chromosome 4. Hematologic evaluation using specific factor analysis revealed an absolute deficiency of factor xl. The article by jokl and federico entitled myositis ossificans traumatica. Women with factor xi deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. The bovine form of the disease was first discovered in holstein cattle in ohio in 1969. Jun 24, 2011 factor xii deficiency is an inherited disorder that affects a protein factor xii involved in blood clotting.
Document downloads what are rare bleeding disorders. Therapeutic products available for the management of fxi deficiency. Apr 01, 2002 factor xi is a zymogen that, upon activation to factor xia, promotes coagulation by activating factor ix. However, regardless of the severity of the protein deficiency, most. The correlation between fxi levels and the bleeding phenotype is much less clear. The plasma halflife of fxi is approximately 52 hours.
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. Boltonmaggs summary factor xi fxi deficiency has a more variable bleeding tendency than hemophilia a or b. If you find this website useful, please reference our publication, saunders et al, 2005. Severe factor xi fxi deficiency is defined when the activated partial thromboplastin time is prolonged and its activation is factor xi gene variants in factor xi deficient patients of. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Pdf the management of factor xi deficiency is not straightforward for three reasons. Factor xi deficiency nord national organization for rare. The zymogen factor is activated into factor xia by factor xiia fxiia, thrombin, and fxia itself. The disorder was first recognized in 1953 by rl rosenthal. Other terms for this disorder include plasma thromboplastin antecedent pta deficiency, rosenthal syndrome, and hemophilia c see image below. Fxideficient patients consistently have prolonged aptts. Jci acquired antibody to factor xi in a patient with.
As the abnormal bleeding was manifested in both sexes two sisters and their maternal uncle, and the clinical features were not consistent with. If you have problems viewing pdf files, download the latest version of adobe reader. A new mechanism for inherited factor xi deficiency blood. It used to be also referred to as hemophilia c in order to distinguish it from the better known hemophilia types a and b. Factor xi deficiency genetic and rare diseases information. Factor xi is a zymogen that, upon activation to factor xia, promotes coagulation by activating factor ix. Stored serum obtained from the organ recipient before transplantation showed normal factor xi levels. Factor xi is part of the coagulation cascade and functions, when activated as part of the intrinsic pathway, to activate factor ix. Professor of medicine hematology and medical oncology mount sinai. A specific protein is missing from the blood so that injured blood vessels cannot heal in the usual way. Factor xi fxi deficiency, also known as haemophilia c, is an inherited bleeding disorder.
The results of studies in a patient with congenital deficiency of factor xi who developed an inhibitor are presented. Jewish kindreds transmitting factor xi deficiency 164 individuals confirmed inheritance to be autosomal with severe deficiency in homozygotes mean factor xi level 3. There is a wide variance in symptoms with mild, moderate and severe cases. Fxii appears to be not essential for blood clotting, as individuals with this condition are usually asymptomatic and form blood clots in vivo. There is a poor correlation between factor xi level and bleeding in patients with factor xi deficiency. We experienced a colon cancer patient with congenital xi factor deficiency who was successfully treated by laparoscopic approach with the administration of the preoperative. Unlike haemophilia a or b, there is no bleeding into joints and muscles. Factor xi and factor xii as targets for new anticoagulants. 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. Most experts suggest a level of approximately 30 to 45 percent. Factor xi deficiency, an injuryrelated bleeding tendency, was first described in 1953 by rosenthal et al 3 in 2 sisters and their maternal aunt and was considered to be transmitted in an autosomal dominant fashion. Selected individuals with partial factor xi deficiency may have bleeding at this level and may require higher levels.
Although factor xi is not as critical to clotting as other factors, a person with factor xi deficiency may still need treatment and attention. People with factor xi 11 deficiency, also called hemophilia c, have low levels of factor xi. Factor xi deficiency is associated with lower risk for cardiovascular. Factor xi fxi deficiency is an autosomal disorder which manifests as bleeding of varying severity. A study of 20 jewish and four nonjewish kindreds transmitting factor xi deficiency 164 individuals confirmed inheritance to be autosomal with severe deficiency in homozygotes mean factor xi. Inheritance and bleeding in factor xi deficiency bolton. Factor xi deficiency fxi inhibitors contact pathway. The information contained on this web site is provided for research purposes only. Severe factor xi fxi deficiency is defined when the activated partial thromboplastin time is prolonged and its activation is 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. Improvement in laboratory tests to clearly identify carriers and normals for this condition will eventually lead to its control and to the further improvement of the holstein breed. Factor xi is one of more than a dozen proteins involved in blood clotting.
Factor xi deficiency is associated with lower risk for. Additional document downloads will be added as available. 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. 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. Recently there have been reports of thrombotic events following the administration of a virally inactivated factor xi concentrate bpl to factor xi deficient patients. Factor xi deficiency also known as haemophilia c, plasma thromboplastin antecedent deficiency or rosenthal syndrome is a clotting disorder. Factor xi deficiency is a rare autosomally transmitted coagulopathy that is associated with a variable bleeding tendency. Biochemistry and the role of factor xi in blood coagulation. Interest in these upstream clotting factors stems from epidemiological evidence that patients with congenital deficiency of factor xi are at lower risk for vte and ischemic stroke 5, 6, the observation that mice deficient in factor xi or xii have attenuated thrombosis at sites of arterial or venous injury 7, 8, the recent identification of. We experienced a colon cancer patient with congenital xi factor deficiency who was successfully treated by laparoscopic approach with. Factor xi deficiency occurs in all racial groups, but is particularly common in ashkenazi jews. The clinical significance of fxi deficiency is complicated in that. This information booklet on factor xi deficiency was prepared by.
Factor xii deficiency is an inherited disorder that affects a protein factor xii involved in blood clotting. 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. Factor xi deficiency acquired by liver transplantation. While homozygotes typically experience more dramatic bleeding symptoms, heterozygotes may experience clinically significant bleeding following surgical procedures or trauma, and therefore the condition is not purely recessive. 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 nord national organization for.
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