Factor xiii deficiency is a rare bleeding disorder. Pdf the plasma circulating zymogenic coagulation factor xiii fxiii is a protransglutaminase, which upon activation by thrombin and calcium. Kruppellike factor klf and the closelyrelated klf9 are members of the spklf family of transcription factors that have collectively emerged as essential regulators of tissue development, differentiation, proliferation, and programmed cell. Factor i deficiency is diagnosed by a variety of blood tests, including screening blood tests for clotting problems. Pdf hereditary factor xiii deficiency ashwin patel. Inheritance of deficiency of fibrinstabilizing factor. Coagulation factor xiii gene, protein structure and function coagulation factor xiii fxiii is a tetrameric fxiiia2b2 protransglutaminase enzyme with an essential role in the final stage of coagulation cascade by cross linking the fibrin monomers and stabilizing the fibrin clot. Factor xiii deficiency is an autosomal recessive disorder. This protein is part of a group of related proteins called coagulation factors that are essential for normal blood clotting. Specifically, individuals with factor xiii deficiency form blood clots like normal, but these clots are unstable and often break down.
Congenital factor xiii deficiency is very rare, affecting only 1 in 2 million people about 100125 people in the us. Jun 24, 2011 factor xii deficiency is an inherited disorder that affects a protein factor xii involved in blood clotting. Signs and symptoms occur as the result of a deficiency in the blood clotting factor , which is responsible for stabilizing the formation of a blood clot. The fa1 gene provides instructions for making one part, the a subunit, of a protein called factor xiii. There is a specific test that measures the amount of fibrinogen in the blood. Iran as a middle east country comprise the high rate of. If the condition is not treated, affected individuals may have episodes of excessive and.
It is passed on from parent to child at the time of conception. Factor xiii fxiii deficiency is a rare congenital bleeding disorder estimated to affect 1 in 2 million live births. Factor xiii deficiency nord national organization for. Corifact is contraindicated in individuals with known anaphylactic or severe systemic. Factor xiii deficiency national hemophilia foundation, usa. Researchers have identified an inherited form and a less severe form that is acquired during a persons lifetime. If the condition is not treated, affected individuals may have episodes of excessive and prolonged bleeding that can be lifethreatening. Factor xiii deficiency is an extremely rare bleeding disorder caused by the depletion of factor xiii in blood. Factor xiii deficiency hsieh 2008 haemophilia wiley. Factor deficiency is rare with a prevalence of only 1 in 2 million in the general population. This condition is classified as either partial or severe based on the degree of deficiency of the factor xi protein.
Most are due to mutations in the a subunit gene located on chromosome 6p25p24. Factor xii deficiency is a rare disorder that is inherited in an autosomal recessive manner. It is not well known, even among health professionals. People with congenital or inherited factor xiii deficiency are born with low levels of factor xiii in the blood.
It is transmitted by autosomal recessive inheritance. Factor xiii is a large 320 kilodalton tetrameric molecule that is composed of two achains and two bchains, a2b2. 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. The condition is commonly due to absence of the factor xiii a subunit protein in the plasma. Factor xiii deficiency is a congenital disorder that is inherited as an autosomal recessive trait and is associated with a variable bleeding tendency acquired factor xiii deficiency is associated with liver failure, inflammatory bowel disease, leukemia, disseminated intravascular coagulation, henochschonlein purpura, systemic lupus. Factor xii deficiency nord national organization for rare. The primary function of activated factor xiii xiiia is to catalyze the formation of covalent bonds between fibrin molecules stabilizing the fibrin clot. Typical bleeding manifestations include umbilical stump bleeding during the first few days of life, postoperative bleeding, and intracranial hemorrhage, which is observed more frequently in fxiii deficiency than in other inherited bleeding disorders. Bleeding into the soft tissues and around the joints periarticular bleeding can also occur. Acquired factor xiii fxiii deficiency is a rare bleeding disorder that can manifest with spontaneous or delayed lifethreatening hemorrhage. Pdf congenital factor xiii deficiency associated with.
Blood should be collected in a bluetop tube containing 3. Most of the fxiii deficiency patients have mutations in the fa gene. Aug 01, 2019 inbal a, oldenburg j, carcao m, rosholm a, tehranchi r, nugent d. Factor xiii deficiency is a rare, genetic bleeding disorder characterized by deficiency of clotting factor xiii. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Factor xiii deficiency haemophilia foundation australia. In addition to the above deficiency, two of the three propositi and two siblings were mildly deficient in factor xii. It is caused by a deficiency of the factor xii hageman factor, a plasma protein glycoprotein. Patients present with bleeding and delayed wound healing usually first noted at the umbilical stump or after circumcision.
Pdf diagnosis of factor xiii deficiency researchgate. Mice lacking the gene for factor xii, however, are less susceptible to thrombosis. Factor is composed of 2 catalytic a subunit bounds and 2 b subunits as carriers a2b2. Prenatal diagnosis in factor xiiia deficiency adc fetal. Congenital deficiency of factor fibrinstabilizing factor. Factor xiii deficiency can be diagnosed before birth prenatally if there is a family history. I had a recent communication through the american society for clinical laboratory science consumer forum in which a patient with severe chronic bleeding symptoms had been diagnosed as having both a factor viii and a factor xiii deficiency. Factor xiii deficiency canadian hemophilia society, 2001 explains how factor xiii deficiency is passed on, what causes it, diagnosis, symptoms, treatments, preventing and treating bleeds, issues relating to women, pregnancy and fertility, lifestyle and vaccinations.
The diagnosis of mild hemophilia b or fix deficiency is more difficult because the newborn. Factor vii fvii deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor. Factor deficiency with severe hemorrhagic diathesis. Its main function is to convert the loose fibrin polymer into a firm, highly organized, cross. Pdf coagulation factor xiii gene, protein structure and function coagulation factor xiii fxiii is a tetrameric fxiiia2b2 protransglutaminase. Factor xiii deficiency is an inherited bleeding disorder. The results of standard laboratory clotting tests, such as prothrombin time, activated partial thromboplastin time, fibrinogen level, platelet count and. Factor xiii deficiency fxiiid is a rare bleeding disorder with an estimated prevalence of 1 in 2million population worldwide. It is caused by abnormal genes that are passed on from the parents to the child at the time of conception. This report presents the first case of factor deficiency in an adult female.
Manno, in blood banking and transfusion medicine second edition, 2007. In iran, a middle eastern country with a high rate of. Differently from all other congenital haemostatic protein deficiencies, in congenital fxiii deficiency typical coagulation screening tests and platelet function tests are. Diagnosis and management of severe congenital factor xiii. Clotting factors are specialized proteins that are essential for the blood to clot properly. Factor xii deficiency genetic and rare diseases information. Molecular basis of inherited factor xiii a deficiency. Factor x deficiency can also be due to another condition or use of certain medicines.
Factor xiii fxiii deficiency is an extremely rare bleeding disorder rbd with estimated incidence of 1 per 2 million. List of factor xiii deficiency medications 3 compared. This rare disorder, also known as proconvertin deficiency or alexanders disease, is often diagnosed at birth. Current understanding in diagnosis and management of. Women with factor xiii deficiency may experience prolonged, heavy bleeding during the periods menorrhagia. Factor xiii deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Fxiii is also known as fibrinstabilizing factor and is responsible for crosslinking of the fibrin polymer. Plasmaderived concentrate of factor xiii used to be the treatment of. Her hemorrhagic manifestations were repeated and severe.
Factor concentrates for the treatment of factor xiii deficiency. They work together as part of the coagulation cascade, which is a series of chemical reactions that forms blood clots in response to injury. Signs and symptoms of inherited factor xiii deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. 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 case was young boy with severe bleeding diathesis and in laboratory assessments his clot was unstable in 5 m urea. Plasma factor xiii binds specifically to fibrinogen molecules containing gamma chains. The bleeding manifestations of these cases are solely due to factor. Factor xiii fxiii is the last enzyme in the clotting cascade. Factor xiii is a proenzyme that is activated in the presence of calcium by thrombin cleavage of the asubunit to become activated factor xiii factor xiiia. Factor xiii deficiency is a rare autosomal recessive congenital deficiency.
Aug 16, 2011 factor xiii deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Intracellular factor xiii including platelet factor xiii comprises only the fxiiia subunits and exists as a homodimer of the a subunit fxiiia 2. Factor xiii deficiency, a primer for anesthesiologist medigraphic. Coagulation factor xiii fxiii is the final enzyme in the coagulation cascade and plays an important role in catalyzing the intermolecular crosslinking of fibrin polymers. Factor xiii deficiency is a rare, genetic bleeding disorder characterized by deficiency.
Treatment often involves prophylaxis with fxiii concentrate and is especially important in preventing intracranial hemorrhage ich and maintaining pregnancy in women of childbearing age. An unusual clinical presentation of factor xiii deficiency and issues relating to the monitoring of factor xiii replacement therapy. Factor xiii deficiency anwar 1999 british journal of. The body produces less factor xiii than it should, or the factor xiii is not working properly, therefore the clotting reaction is blocked prematurely and the blood clot does not form. Laboratory evaluation rare coagulation disorders rare. The case of a baby is reported who showed typical clinical features of factor xiiia deficiency, including recurrent bleeding from the umbilical stump and a life threatening haemorrhage. The diagnosis of fxiiid is challenging due to normal standard coagulation assays requiring specific fxiii assays for diagnosis, which is especially difficult in developing countries. Signs and symptoms occur as the result of a deficiency in the blood clotting factor , which is responsible for stabilizing the formation of. Even though the initial clot forms and bleeding stops, the. Oct 30, 2008 factor xiii deficiency congenital fxiii deficiency can be due to defects in either fxiii. Bleeding disorders as a result of mutations in the fxiii b subunit gene occurs infrequently factor xiii deficiency cases.
In this case report, we describe a patient with recurrent hematomas, following a revision total hip arthroplasty tha. Causes of acquired deficiency include immunemediated inhibition, as well as nonimmune fxiii hyperconsumption or hyposynthesis. Factor xiii or fibrin stabilizing factor is a zymogen found from the blood of humans and some other animals. In a family with 14 children severe deficiency of factor xiii was found in three living members who suffered from moderate to severe bleeding manifestations. Congenital factor xiii deficiency rare bleeding disorders. Fxiii deficiency, bleeding disorders, wound healing, pregnancy, prophylaxis, replacement therapy. Given prevalence data, i compute the odds of this combination as 1 in 10 billion, and have found no published cases, though i found two. Factor xiii deficiency, rare bleeding disorder, laboratory diagnosis the role of factor xiii in hemostasis coagulation factor xiii fxiii is a zymogen that acts as a multifunctional protein. Factor xiii fxiii is a heterodimer and circulates in plasma as a protransglutaminase consisting of two catalytic a subunits fxiiia 2 and two noncatalytic b subunits fxiiib 2 held together by noncovalent bonds. This team devises a coordinated care plan for the patient and relies on his private physician for followup.
Factor xiii deficiency affects males and females in equal numbers. The incidence of factor xiii deficiency has been estimated to be between 1 in 2,000,0005,000,000 people in the general population. The severity of symptoms ranges from mild to severe depending on the amount of factor xiii present in the blood and its activity. Deficiency of fxiii is associated with reduced clot stability, and therefore ecchymoses or hematomas are usually seen 24 to 36 hours after trauma. Factor xiii deficiency an overview sciencedirect topics. Inhibitors were reported in 3 of 72 patients with factor xiii deficiency 4 percent, although only one was.
There are several options for this including chorionic villus sampling cvs early in pregnancy or amniocentesis around 15 to 20 weeks or so. This suggesting thesuggest the presence of factor xiii deficiency in this patient. Unlike other clotting factor deficiencies, factor xii deficiency is totally asymptomatic and does not cause excess bleeding. Inbal a, oldenburg j, carcao m, rosholm a, tehranchi r, nugent d. Communication between the patients private physician and the hemophilia. Factor xiii deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The condition is commonly due to absence of the factor xiiia subunit protein in the plasma. The incidence is one in a million to one in five million people, with higher incidence in areas with consanguineous marriage such as iran that has the highest global incidence of the disorder.
Deficiency of xiii worsens clot stability and increases bleeding tendency. In type 2 deficiency fxiiia2b2 heterotetramer is normal to mildly reduced antigen level, but activity is low, suggesting a dysfunctional protein variant with no loss in detectable antigen. Bleeding ranges from mild to severe depending on how severe the deficiency is. Severe congenital factor xiii subunit a deficiency is an ex tremely rare, autosomal recessive disorders affecting in the range of 2,000,0005,000,000 people. Factor xii deficiency is a rare genetic blood disorder that causes prolonged clotting coagulation of blood in a test tube without the presence of prolonged clinical bleeding tendencies. Bleeding disorders as a result of mutations in the fxiii b subunit gene occurs infrequently factor xiii fxiii deficiency is a rare congenital bleeding disorder estimated to affect 1 in 2 million live births. In order to work, factor xiii is turned on, or activated, by a protein called thrombin and also calcium in the blood. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders. Xiiia is an enzyme of the blood coagulation system that crosslinks fibrin.
Factor xiii is one of the factors that plays a unique role in helping your blood clot. Factor xiii deficiency is different to other clotting disorders in that a clot forms after injury but it is unstable so breaks down and starts to bleed again. Individuals of any race or ethnicity can be affected. Recurrent hematomas following a revision total hip. Factor xiii is a protein that stabilizes blood clots factor xiii f xiii or factor is one of the 12 clotting factors that are labeled factors i to xiii factors v and vi actually denote the same clotting factor. 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. While its not one of the factors that make your blood clot, its important in making a strong clot. Citrated plasma samples should be collected by double centrifugation. Factor xiii plays an important role in the crosslinking of polymerized fibrin. The case of a baby is reported who showed typical clinical features of factor xiii a deficiency, including recurrent bleeding from the umbilical stump and a life threatening haemorrhage. Low fibrinogen levels or abnormal function may also be the sign of another disease, such as liver or kidney disorders, so consultation with a. Deficiency of fxiii is associated with reduced clot stability, and therefore ecchymoses or. Oct, 2017 factor xiii deficiency fxiiid is a rare hereditary bleeding disorder arising from heterogeneous mutations, which can lead to life. Congenital fxiii deficiency can be due to defects in either fxiii.
In addition to its essential role in hemostasis, fxiii is involved in maintenance of pregnancy, wound healing, and angiogenesis. Fxiii deficiency is a rare disorder that presents with recurrent soft tissue bleeding. Factor xiii deficiency nord national organization for rare. Congenital fxiii deficiency is a severe bleeding disorder transmitted in an autosomalrecessive manner. Factor xiii deficiency categorized among rare bleeding disorders and thought to be occur in about 1 in million in general population3,4,5. It consist of 2 enzymatic a peptides and 2 nonenzymatic b.
Nugent division of hematology, childrens hospital of orange county, orange, ca, usa summary. Factor xiii fxiii deficiency is a bleeding disorder and it inherited in an autosomal recessive manner. Diagnosis and classification of factor xiii deficiencies. Congenital fxiii deficiency is a rare bleeding disorder, with an. Congenital factor xiii deficiency is a severe bleeding disorder that is inherited as an autosomal recessive trait. Factor x deficiency is often caused by an inherited defect in the factor x gene. Figure 1 shows what can happen when a carrier of the defective gene has a child with another carrier. Even though the initial clot forms and bleeding stops, the clot will eventually break down. A deficiency is a rare bleeding disorder that affects one individual in million 3, 4. After birth, factor xiii deficiency can be diagnosed using a sample of blood for testing in the laboratory. Factor xiii deficiency genetics home reference nih. The incidence of factor vii deficiency is estimated to be 1 in 300,000 to 500,000 people, and affects men and women equally.
However, regardless of the severity of the protein deficiency, most. Pdf coagulation factor xiii deficiency researchgate. In the absence of factor the abnormal fibrin is soluble in acetic acid, as well as 5m urea. Factor xiii deficiency great ormond street hospital.
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