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. Factor x fx deficiency is a rare, recessively inherited bleeding disorder representing 10% of all rare bleeding diseases and. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. A selective acquired factor x deficiency is an unusual occurrence. 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. Factor x fx deficiency is an autosomal recessive trait that occurs in fewer than 1 in 500 000 people. Factor x fx deficiency is a rare, recessively inherited bleeding disorder representing 10% of all rare bleeding diseases and affecting 1 in every 1,000,000 people. In many of the cases, clinical bleeding could not be accounted for by deficiency of factor x alone. Factor x deficiency is a rare inherited bleeding disorder that causes abnormal blood coagulation, resulting from a shortage of the plasma protein.
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. Talking with your healthcare provider about treatment options for factor x deficiency living with hereditary factor x deficiency can be a challenge. Factor vii deficiency is a bleeding disorder characterized by a lack in the production of factor vii fvii proconvertin, a protein that causes blood to clot in the coagulation cascade. Pdf severe factor x deficiency and successful pregnancy. Produced in the liver fx when activated cleaves prothrombin to generate thrombin in the intrinsic pathway of coagulation. Factor xi fxi deficiency, also known as haemophilia c, is an inherited bleeding disorder. Acquired form of fx deficiency is also rare and usually occurs in relation with al amyloidosis. Document downloads what are rare bleeding disorders. Factor x deficiency is a rare autosomal recessive bleeding disorder showing variable phenotypic severity. These very rare factor deficiencies, from factor xiii deficiency, the rarest, occurring in an estimated 1 out of 5 million people, to factor xi deficiency, occurring in about 1 out of 100,000, were all discovered and identified in the 20 th century. An uncommon presentation of al amyloidosis article pdf available in upsala journal of medical sciences 1174 june 2012 with 106 reads how we measure reads.
Step 2 the blood vessels contract to restrict the blood. Bleeding ranges from mild to severe depending on how severe the deficiency is. Research rare coagulation disorders rare bleeding disorders. Factor x deficiency results from either a protein deficiency or production of a functionally abnormal protein. Factor x, human coagadex is a plasmaderived human blood coagulation factor indicated in adults and children with hereditary factor x deficiency. Isolated factor x deficiency has been reported in association with respiratory infections, 96 lupus anticoagulant, 97 and acute myeloid leukemia aml and other malignancies. Factor x deficiency nord national organization for rare. Decreased factor x levels in al occurs independent of hepatic parenchymal disease and as in this case, may occur as an isolated factor deficiency. We now report our experience of the use of prophylactic therapy in a fx. Bleeding is correlated with factor x levels, and symptoms include epistaxis, menorrhagia, hemarthrosis, intracranial or gastrointestinal hemorrhage. Pdf inherited moderate factor x deficiency presenting as. This disorder is one of the worlds most rare factor deficiencies. The incidence of fx deficiency is estimated at 1 in 500,000 to 1 in a million. Factor x deficiency genetic and rare diseases information.
Krause, john r acquired factor x deficiency and amyloidosis. Acquired isolated factor x deficiency may also occur secondary to a specific factor x inhibitor. Congenital factor x fx deficiency with an estimated incidence of 1. Pdf an analysis of 8 cases of factor x deficiency researchgate.
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. The demonstrated improvement of factor x prowerstuart factor deficiency during pregnancy, 1 and the further demonstration by alexander and pechet 2 of increased clotting factors during pregnancy, has prompted the use of norethynodrel, a progestational agent, in the control of this clotting disorder. There are occasional reports of factor x deficiency from india. Factor x deficiency can also be due to another condition or use of certain medicines. Feb 18, 2020 factor x deficiency is a bleeding disorder that can be inherited or acquired. Factor x deficiency and pregnancy, laboratory medicine, volume 34, issue 4, 1 april 2003, pag. 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. At baseline 2 out of 16 participants were classified as having moderate factor x deficiency defined as a factor x concentration of 1 to 5 iu100 ml in their blood and 14 out of 16 participants as having severe factor x deficiency defined as a factor x. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for factor x deficiency. Homozygous factor x deficiency has an incidence of 1. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Six cases of an acquired factor x deficiency in association with amyloidosis have been reported.
Biological methods of diagnosis an fvii deficiency is suspected when a prolonged quick time is associated with a. Other factor deficiencies national hemophilia foundation. Laboratory evaluation typically demonstrates an elevated aptt and pt with incomplete correction in plasma mixing studies. In another series of 150 women with heavy menstrual bleeding, five 3 percent had factor xi deficiency, in one case in combination with vwd and factor x deficiency. The majority of these conditions were only identified within the last 6070 years. Factor x deficiency and pregnancy laboratory medicine. Factor x deficiency is often caused by an inherited defect in the factor x gene. Inherited moderate factor x deficiency presenting as cardiac. Inherited factor xi deficiency is relatively common in individuals of ashkenazi eastern and central european jewish and iraqi jewish ancestry, with a rate of heterozygosity as. Modest deficiency of factor x was often associated with severe bleeding. Congenital deficiency of factor x is a rare condition resulting from homozygous or compound heterozygous defects in the autosomal genes for factor x located on chromosome. Norethynodrel in the treatment of factor x deficiency jama.
Acquired factor x deficiency can be caused by severe liver disease, vitamin k deficiency, or anticoagulant drugs such as warfarin. Recently, an international organization international society on thrombosis and hemostasis proposed a classification of factor x deficiency severity based upon factor activity and associated symptoms, with a few exceptions. A viable mouse model of factor x deficiency provides evidence for maternal transfer of factor x s j tai, r w herzog, p margaritis, v r arruda, k chu, j a golden, p a labosky, k a high j thromb haemost. Acquired factor x deficiency and amyloidosis american. Not surprisingly, reports of prophylactic treatment for fx deficiency are exceedingly rare. Factor xi deficiency genetic and rare diseases information. Factor x participates in both intrinsic and extrinsic pathways of coagulation final common pathway by serving as the enzyme factor xa in the prothrombinase complex. Acquired factor x deficiency associated with systematized.
After a trauma factor vii initiates the process of coagulation in conjunction with tissue factor tf factor iii in the extrinsic pathway. Factor x level increases in pregnancy of nonaffected women condie, 1976, but factor x deficient women have been described to have uterine bleeding, fetal loss and postpartum haemorrhage. Factor xi deficiency is a rare genetic bleeding disorder caused by reduced levels and insufficient activity of a blood protein called factor xi. Bleeding symptoms of rare clotting factor deficiencies. Factor x is a vitamin kdependent serine protease that is synthesized in the liver. Severe factor x deficiencya rare coagulation disorder. Factor x deficiency results in a rare but serious bleeding disorder that might be treated by expressing a normal factor x gene in patients. Factor x deficiency is a rare disorder that affects the bloods ability to clot. Summary an infant witha severe deficiency of factor.
This condition is classified as either partial or severe based on the degree of deficiency of the factor xi protein. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. Factor x deficiency has also been reported in association with a variety of medical conditions, such systemic lightchain amyloidosis particularly in advanced cases and atypical chronic lymphoid leukemia. Talking with your healthcare provider about treatment options.
It may be used for routine prophylaxis to reduce frequency of bleeding episodes, and can also be initiated for ondemand treatment at the first sign of a bleeding episode, at a dose of 25 iukg. Factor x fx, or stuartprower factor, deficiency was first identified in the 1950s in the us and england in two patients. Utility of factor x concentrate for the treatment of acquired. Severe factor x deficiency and successful pregnancy outcome. The inherited form of factor x deficiency, known as congenital factor x deficiency, is caused by mutations in the f10 gene, which provides instructions for making a protein called coagulation factor x. Step 3 the platelets stick to the walls of damaged vessels and spread out, which is called platelet adhesion. Acquired factor x deficiency is the most common coagulation factor deficiency identified in al amyloidosis and it occurs presumably as a result of adsorption of factor x to amyloid deposits. Factor x deficiency is a rare bleeding disorder that varies in the severity of its clinical manifestations. These inhibitors are rare and may arise without provocation or may occur in association with underlying infections, such as leprosy. Factor x deficiency an inherited bleeding disorder 6 there are four steps involved in forming a plug.
Common features of factor x deficiency may include easy bruising, frequent nosebleeds, bleeding gums, blood in the urine, and prolonged bleeding after minor injuries. However, regardless of the severity of the protein deficiency, most. Timing of presentation factor x deficiency can present at any age and with variable manifestations. Acquired factor x deficiency in patients with primary. Factor deficient plasmas haematologic technologies, inc. Acquired factor x fx deficiency is a rare but serious complication of primary amyloidosis, presumably caused by the binding of amyloid proteins to the clotting factors. Inherited factor x deficiency is autosomal recessive, with heterozygotes most often remaining asymptomatic or having only a mild bleeding tendency. Factor x deficiency x as roman numeral ten is a bleeding disorder characterized by a lack in the production of factor x fx, an enzyme protein that causes blood to clot in the coagulation cascade. Pdf factor x fx is a vitamin kdependent, serine protease produced by the liver that serves pivotal role as the first enzyme in the.
Women with factor xi deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. Factor x deficiency is a rare bleeding disorder rbd with a prevalence of 1 in 1 million in the general population 1,2. The prolonged prothrombin time, partial thromboplastin time, and low fx level, which are correctable by mixing study, are the disease hallmarks. Acquired factor x deficiency associated with systematized amyloidosisa report of a case. Factor x deficiency is a rare genetic blood disorder that causes the normal clotting. Factor x helps activate a protein called prothrombin factor ii, which is needed to form a stable blood clot. Factor x deficiency genetic and rare diseases information center. This is not true for all bleeding disorders, but is true for factor x deficiency. Manno, in blood banking and transfusion medicine second edition, 2007. Treatment of factor x deficiency involves replacement of the protein with either fresh frozen plasma or prothrombin complex concentrates, although the latter. Manuscript modified from original article published in haemophilia 2008 brown dl, kouides pa. Fx deficiency fxd is one of the most severe rbd accompanied by a wide.
Pdf factor x deficiency is a rare coagulation defect. This process is vitamin k dependent and enhanced by activated. Diagnosis and treatment of inherited factor x deficiency. Factor x deficiency, also called stuartprower factor deficiency, is a condition caused by not having enough of the protein known as factor x in your blood. Factor x deficiency is a rare bleeding disorder inherited as. Patients with severe factor x deficiency may present. May 01, 2014 coagulation abnormalities are frequent in systemic lightchain al amyloidosis, 1 6. Acquired factor x deficiency in patients with amyloid light. Factor xi deficiency haemophilia foundation australia.
Ibima publishing severe factor x deficiencya rare coagulation. Feb 18, 2020 factor x, human coagadex is a plasmaderived human blood coagulation factor indicated in adults and children with hereditary factor x deficiency. Factor x deficiency centre for arab genomic studies. Until recently, the treatments available were designed for other disorders and contain larger amounts of other proteins, such as factors ii and ix, in addition to factor x. Feb 05, 2016 factor xi deficiency is a bleeding disorder that interferes with the bodys clotting process. Factor x deficiency, which is inherited as an autosomal recessive trait, is one of the rarest of the inherited coagulation disorders. Factor xi deficiency nord national organization for rare. Inherited factor x deficiency is a rare bleeding disorder. Prophylactic treatment of severe factor x deficiency with.