Factor xiii deficiency is an inherited bleeding disorder. 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 v deficiency is usually caused by mutations in the f5 gene, which provides instructions for making a protein called coagulation factor v. Treatment of rare factor deficiencies in 2016 hematology. Unlike other clotting factor deficiencies, factor xii deficiency is totally asymptomatic and does not cause excess bleeding. Factor xiii deficiency is an extremely rare bleeding disorder caused by the depletion of factor xiii in blood. Signs and symptoms of inherited factor xiii deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. Jun 24, 2011 factor xii deficiency is an inherited disorder that affects a protein factor xii involved in blood clotting. 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. Congenital deficiency of factor fibrinstabilizing factor.
Factor xiii deficiency haemophilia foundation australia. The fa1 gene provides instructions for making one part, the a subunit, of a protein called factor xiii. List of factor xiii deficiency medications 3 compared. The purpose of this booklet is to describe this bleeding disorder. Vitamin d deficiency as a risk factor for dementia and. This coagulation blood disorder is inherited in an autosomal recessive manner. Severe congenital factor xiii subunit a deficiency is an ex tremely rare, autosomal recessive disorders. For patients receiving factor viii or factor ix products for prophylaxis and breakthrough bleeding episodes, two separate.
Boltonmaggs summary factor xi fxi deficiency has a more variable bleeding tendency than hemophilia a or b. Factor x deficiency is often caused by an inherited defect in the factor x gene. The incidence of factor xiii deficiency has been estimated to be between 1 in 2,000,0005,000,000 people in the general population. Diagnosis is difficult because many of the tests typically used to test coagulation eg, pr othrombin. Therefore, if the diagnosis of severe congenital fxiii deficiency is confirmed. There is a 1in2 chance that a child will be a carrier. Factor xiii deficiency is normally treated with fresh frozen plasma, cryoprecipitate or crude factor xiii concentrate from placenta. Revised 6 2019 dispensing amount for all factor recombinant products must be within three percent aggregate of the prescribed target dose.
Division of hematology, childrens hospital of orange county, orange, ca, usa. Hereditary deficiency of factor xiii is an extremely rare condition. Factor xiii deficiency can be diagnosed before birth prenatally if there is a family history. Factor vii fvii deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor. Its caused by a recessive gene, which means that you have to inherit the gene from both of. Factor xii is also known as hageman factor, named after the patient in whom this condition was. If the condition is not treated, affected individuals may have episodes of excessive and. Factor xiii deficiency is a rare, genetic bleeding disorder characterized by deficiency of clotting factor xiii. Her hemorrhagic manifestations were repeated and severe. Fxii deficiency tends to be identified during presurgical. In iran, a middle eastern country with a high rate of.
Additional document downloads will be added as available. Inhibitors and other complications national hemophilia. Aug 01, 2019 the hemostatic system, consisting of blood vessels and blood, plays a crucial role in human survival. Factor xiii deficiency is a rare bleeding disorder.
Its prevalence depends on geographic region and is higher in areas in which. Factor xiii deficiency national hemophilia foundation, usa. The severity of factor xiii deficiency bleeds can vary greatly from one person to another. It is transmitted by autosomal recessive inheritance. It is not well known, even among health professionals. 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 xiii is a tetrameric zymogen composed of two catalytic a subunits fxiiia2 bound to two. Factor xiii deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Most patients with factor xiii deficiency only lack functional subunit a protein with a frequency of around 1 in 5 million individuals.
This information booklet on factor xiii deficiency was prepared by. After birth, factor xiii deficiency can be diagnosed using a sample of blood for testing in the laboratory. Factor xiii deficiency great ormond street hospital. The majority of these conditions were only identified within the. Signs and symptoms occur as the result of a deficiency in the blood clotting factor , which is responsible for stabilizing the formation of. State of californiahealth and human services agency. 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. Review article current understanding in diagnosis and management of factor xiii deficiency. C h ro mo g e n i c a s s ay factor xiii, qualitativ e, with reflex to factor xiii 1. These inhibitors, which occurs very rarely but may cause life.
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. Identification of a new leu354pro mutation responsible for factor xiii deficiency. Factor xiii fxiii deficiency is an inherited bleeding disorder caused when persons body doesnt produce enough of a protein in the blood factor xiii which helps blood clot or the factor xiii doesnt work properly. Pdf congenital factor xiii deficiency associated with.
Naderi m md1, dorgalaleh a msc2, tabibian sh msc2, alizadeh sh phd2, eshghi p md3, solaimani gh md1. There are several options for this including chorionic villus sampling cvs early in pregnancy or amniocentesis around 15 to 20 weeks or so. Spontaneous rupture of spleen due to factor xiii defieciency is a rare cause of abdominal pain with disastrous consequences and can be easily confused with other abdominal pathologies until a strong possibility is entertained. Thompson a r, harter l a, manual of hemostasis and thrombosis. Factor xiii deficiency affects males and females in equal numbers. Specifically, individuals with factor xiii deficiency form blood clots like normal, but these clots are unstable and often break down. 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. Two novel and one recurrent missense mutation in the factor xiii a gene in two dutch patients with factor xiii deficiency.
Factor x aids in the formation of thrombin from prothrombin, in the clotting cascade. Coagulation factor xiii fxiii is a protein that promotes fibrin stabilization by forming multiple covalent crosslinks between fibrin monomers. Coagulation mixing studies learning objectives at the conclusion of this webinar, the participant 1. Homozygote and double heterozygote have plasmatic factor xiii activity less than 1%, responsible of bleeding syndrome. Inheritance of deficiency of fibrinstabilizing factor. The majority of these conditions were only identified within the last 6070 years. Factor xiii is the final enzyme in the coagulation cascade and is responsible for catalyzing the intermolecular crosslinking of fibrin polymers, therefore increasing the mechanical rigidity of the fibrin clot.
Factor x deficiency can also be due to another condition or use of certain medicines. Even though the initial clot forms and bleeding stops, the clot will eventually break down. Correlates mixing study results with coagulation test results 2. Causes of acquired deficiency include immunemediated inhibition, as well as nonimmune fxiii hyperconsumption or hyposynthesis. Umbilical cord bleeding is common in factor xiii deficiency, reported in almost 80% of cases. Jul 21, 2017 factor v deficiency may be inherited or acquired after birth. New developments in the management of congenital factor xiii. Factor xii deficiency nord national organization for rare. Factor xiii deficiency, a primer for anesthesiologist medigraphic. Researchers have identified an inherited form and a less severe form that is acquired during a persons lifetime. Genetic researcher center in noncommunicable disease, zahedan university of medical sciences. Even though the initial clot forms and bleeding stops, the. Factor xiii deficiency nord national organization for. Inherited factor xiii fxiii deficiency is a rare bleeding disorder that.
The incidence of factor vii deficiency is estimated to be 1 in 300,000 to 500,000 people, and affects men and women equally. Factor xiii is the last clotting factor in the coagulation cascade to insure strength and stability to fibrin clots. This form of the disorder is referred to as type ii factor xiii deficiency. Mice lacking the gene for factor xii, however, are less susceptible to thrombosis. Pdf coagulation factor xiii gene, protein structure and function coagulation factor xiii fxiii is a tetrameric fxiiia2b2 protransglutaminase. Factor deficiency causes inherited factor 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. Clotting factors are specialized proteins that are essential for the blood to clot properly. Individuals of any race or ethnicity can be affected. Plasma factor xiii binds specifically to fibrinogen molecules containing gamma chains.
This rare disorder, also known as proconvertin deficiency or alexanders disease, is often diagnosed at birth. It is caused by a deficiency of the factor xii hageman factor, a plasma protein glycoprotein. Other factor deficiencies national hemophilia foundation. Aug 01, 2019 inbal a, oldenburg j, carcao m, rosholm a, tehranchi r, nugent d. Some patients have more severe complications, while others have only mild complications. Fxii appears to be not essential for blood clotting, as individuals with this condition are usually asymptomatic and form blood clots in vivo. Nov, 2019 in the sensitivity analysis, with removal of each study in turn, the association between vitamin d deficiency and ad ranged from 1.
This francecoag network study assessed 33 patients with congenital factor xiii fxiii deficiency presenting fxiii levels pdf abstract background. Factor xiii deficiency nord national organization for rare. 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. 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 fxiiid is a rare bleeding disorder with an estimated prevalence of 1 in 2million population worldwide. Factor xiii deficiency an overview sciencedirect topics. Figure 1 shows what can happen when a carrier of factor xiii deficiency has children with. 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. People with congenital or inherited factor xiii deficiency are born with low levels of factor xiii in the blood. Xiiia is an enzyme of the blood coagulation system that crosslinks fibrin. Acquired factor xiii fxiii deficiency is a rare bleeding disorder that can manifest with spontaneous or delayed lifethreatening hemorrhage. Factor xii deficiency genetic and rare diseases information.
Deficiency of xiii worsens clot stability and increases bleeding tendency. Inbal a, oldenburg j, carcao m, rosholm a, tehranchi r, nugent d. Bleeding ranges from mild to severe depending on how severe the deficiency is. Factor vii initiates the clotting sequence when it binds to tissue factor upon exposure to circulating blood, upon blood vessel injury. Factor xiii deficiency has been classified into two categories. Factor xii deficiency is a rare disorder that is inherited in an autosomal recessive manner. Factor concentrates for the treatment of factor xiii deficiency.
Factor xiii deficiency occurs exceedingly rarely, causing a severe bleeding tendency. Review article current understanding in diagnosis and. Approximately one in every three to five million people suffer from congenital factor xiii fxiii deficiency globally. The importance of the plasma coagulation system in protecting life and preventing further blood loss following transection of a blood vessel has been understood for a long time. The diagnosis is usually made on high degree of clinical suspicion and falling. Congenital factor xiii deficiency is very rare, affecting only 1 in 2 million people about 100125 people in the us. 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. Diagnosis and classification of factor xiii deficiencies. Visit the uncommon factor deficiencies consult topic for additional information about characteristics of acquir ed and inherited fxiii deficiency.
Learn more about factor xiii fxiii deficiency, also called fibrin stabilizing factor deficiency. Factor xiii deficiency genetic and rare diseases information. Hemostasis may be achieved with levels as low as 2% to 3%. Factor xiii or fibrin stabilizing factor is a zymogen found from the blood of humans and some other animals. Nugent division of hematology, childrens hospital of orange county, orange, ca, usa summary. 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. This protein is part of a group of related proteins called coagulation factors that are essential for normal blood clotting. To clarify the genetic bases of these diseases, previously reported cases of the type i deficiency were examined at the dna level. Factor xiii deficiency the medical biochemistry page.
The rare coagulation disorders paula hb boltonmaggs introduction the rare coagulation disorders are inherited abnormalities of hemostasis that may present significant difficulties in diagnosis and management. The overall frequency of these disorders in the general population is low with the exception of factor xi deficiency. Beside congenital fxiii deficiency, due to fxiii gene mutations, severe acquired fxiii deficiency has been described in association with autoantibodies against coagulation fxiii. Figure 1 shows what can happen when a carrier of the defective gene has a child with another carrier. Type i factor xiii deficiency is caused by a genetic. Explains why the mixing study is an acute care assay 4. A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency. Factor xiii deficiency is an autosomal recessive congenital bleeding disease. This report presents the first case of factor deficiency in an adult female. Umbilical bleeding is the most common and evocative symptom. Deficiency of fxiii is associated with reduced clot stability, and therefore ecchymoses or. Successful prophylactic treatment for bleeding in a girl with severe hereditary prothrombin deficiency using a. Prepares a stepwise ptt and pt mixing study protocol 2.
Factor xiii fxiii deficiency is an extremely rare bleeding disorder rbd with estimated incidence of 1 per 2 million. Factor xiii deficiency is a rare inherited coagulopathy. Factor xiii deficiency categorized among rare bleeding disorders and thought to be occur in about 1 in million in general population3,4,5. Factor xiii deficiency genetics home reference nih. Inherited factor xiii deficiency results from mutations in the fa1 gene or, less commonly, the fb gene. The patients usually present in emergengy with acute abdomen and diagnosis is difficult.
Manno, in blood banking and transfusion medicine second edition, 2007. Compared with the halflife of other coagulation factors, the halflife of f xiii is very long 9. Factor deficiency with severe hemorrhagic diathesis. This report deals with the genetic form of factor xiii deficiency, which is. Hereditary deficiency of this enzyme is a rare cause of a lifelong bleeding disorder, and homozygotes for this autosomal recessive disorder have factor xiii activity. When the protein, prothrombin, is activated to make thrombin, this helps change fibrinogen factor i into fibrin, which is needed to form a stable clot.
1466 1252 1264 818 1449 563 632 644 553 916 628 33 1204 1327 404 1558 1052 304 945 118 75 1274 511 604 783 869 1020 262 1246 589 1306 176 428 716