Factor xiii deficiency is a rare, genetic bleeding disorder characterized by. Congenital factor xiii deficiency is a rare 1 in 35 million people autosomal recessively inherited severe bleeding disorder most commonly due to the deficiency of a subunit 2. Factor xii deficiency genetic and rare diseases information. Factor xiii deficiency affects males and females in equal numbers. Factor xiii fxiii is the fibrin stabilizing factor that circulates in plasma as a heterodimer with two catalytic a subunits and two carrier b subunits, with different sites of production. It wasnt too bad so with the help of some ddavp to boost my factor viii, i had surgery on may 20th. 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. Carrier detection and prenatal diagnosis can be carried out by testing against the range of known mutations or indirectly by linkage analysis. Life threatening ich occurs in higher frequency in patients with prothrombin, factor x, and factor xiii deficiencies as well as in subsets of factor vii deficiency. Factor xiii fxiii, or fibrin stabilizing factor, deficiency was first reported in the literature in 1960.
Deficiency of fxiii is associated with reduced clot stability, and therefore ecchymoses or hematomas are usually seen 24 to 36 hours after trauma. Umbilical cord bleeding is common in factor xiii deficiency, reported in almost 80% of cases. List of factor xiii deficiency medications 3 compared. Pdf a practical approach in laboratory and molecular. Two novel and one recurrent missense mutation in the factor xiii a gene in two dutch patients with factor xiii deficiency. Nugent division of hematology, childrens hospital of orange county, orange, ca, usa summary. Specifically, individuals with factor xiii deficiency form blood clots like. Factor xi deficiency is a rare genetic bleeding disorder caused by reduced levels and insufficient activity of a blood protein called factor xi. Up to 30% of patients sustain a spontaneous intracranial hemorrhage, a brain bleed, which is the leading cause of mortality. 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. This booklet has been written in order to inform people with factor vii. 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 incidence of factor xiii deficiency has been estimated to be between 1 in 2,000,0005,000,000 people in the general population. Factor xiii fxiii deficiency is a rare congenital bleeding disorder estimated to affect 1 in 2 million live births.
Congenital factor xiii deficiency rare bleeding disorders. This net makes the blood clot stable and stops the bleeding until the vessel wall can heal. We report a case of 7 years old male child who presented to us as a diagnosed. Learn more about factor xiii fxiii deficiency, also called fibrin stabilizing factor deficiency. Signs and symptoms of inherited factor xiii deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. The dose is repeated every 48 to 72 hours depending on measured factor xi levels. Factor x deficiency is a rare bleeding disorder that varies in severity among affected individuals.
Congenital deficiency factor xiii, ac quired deficiency, factor xiii asubunit, and factor xiii bsubunit. Activated factor xii converts prekallikrein to kallikrein which activates more factor xii, liberates bradykinin from high molecular weight kininogen, and activates complement components c3 and c5, activates factor xi which eventually leads to thrombin generation via the intrinsic pathway, and also activates c1 esterase, thereby activating the. Congenital factor xiii deficiency is very rare, affecting only 1 in 2 million people about 100125 people in the us. 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. In iran, a middle eastern country with a high rate of. Combined factor v 5 and factor viii 8 deficiency is an inherited bleeding disorder that is caused by low levels of factors v and viii. Congenital fxiii deficiency is a rare bleeding disorder, with an autosomal. Factor xiii deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Jun 24, 2011 factor xii deficiency is an inherited disorder that affects a protein factor xii involved in blood clotting. Factor xiii deficiency is normally treated with fresh frozen plasma, cryoprecipitate or crude factor xiii concentrate from placenta.
Factor viii deficiency risks, symptoms and leading. Identification of a new leu354pro mutation responsible for factor xiii deficiency. Factor xii deficiency definition of factor xii deficiency. Combined factor vii and x is a rare congenital blood disorder with very few cases reported in the literature. 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. It should be suspected in patients with an abnormal bleeding history and females with recurrent. No racial or ethnic group is disproportionately affected. New developments in the management of congenital factor xiii. Factor xiii deficiency fxiiid is a rare bleeding disorder with an estimated. Factor xiii deficiency is a rare bleeding disorder. Even though the initial clot forms and bleeding stops, the clot will eventually break down.
Factor xi deficiency nord national organization for rare. Factor xiii deficiency genetic and rare diseases information. Xiiia is an enzyme of the blood coagulation system that crosslinks fibrin. Intracerebral hemorrhage ich is a common life threatening condition associated with substantial mortality 62% within one year and disability 31% with functional independence at 3 months. Diagnosis and management of severe congenital factor xiii. Deficiency of xiii worsens clot stability and increases bleeding tendency. Selected individuals with partial factor xi deficiency may have bleeding at this level and may require higher levels. Most are due to mutations in the a subunit gene located on chromosome 6p25p24. The deficiency of the clotting factor is either the body does not make enough factor xiii or factor xiii is not working like it should according to, factorxiii protein stabilizes the formation of a. Factor xiii deficiency national hemophilia foundation, usa. Jun 30, 2014 haemophilia a results from heterogeneous mutations in the factor viii gene that map to xq28. Factor x deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of the gums, blood in the. Factor xiii deficiency fxiiid is an extremely rare bleeding.
Molecular basis of congenital factor xiii deficiency in iran akbar. Bleeding disorders as a result of mutations in the fxiii b subunit gene occurs infrequently factor xiii deficiency cases. Subunit a contains the catalytic site, the activation peptide, a calciumbinding site, and free sulfhydryl sh groups. Factor xiii is an inherited bleeding disorder that is caused by complications with factor xiii when the clotting reaction is blocked too soon causing the blood clot to not form. Free factor xiii activation peptide affects factor xiii function.
Coagulation factor xiii gene, protein structure and function coagulation factor xiii fxiii is a tetrameric fxiii. It is inherited in an autosomal recessive fashion, which means factor xiii deficiency affects men and women equally. Individuals of any race or ethnicity can be affected. Treatment often involves prophylaxis with fxiii concentrate and is especially important in preventing intracranial hemorrhage ich and maintaining pregnancy in women of childbearing age. Factor xiii deficiency, also known as fibrin stabilizing deficiency, is a rare genetic bleeding disorder. 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. Haemophilia a factor viii deficiency information patient. Other symptoms of factor xiii deficiency include bruising, nose and mouth bleeds, muscle bleeds and delayed bleeding after surgery. Clotting factors are specialized proteins that are essential for the blood to clot properly. 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.
Factor xiii deficiency an overview sciencedirect topics. Most patients with factor xiii deficiency only lack functional subunit a protein with a frequency of around 1 in 5 million individuals. In the united states and europe, the incidence rate ranges from 20 to 60 per 100,000 adults ages 4584. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. The incidence of factor xiii deficiency is estimated at one in five million births. Factor xiii deficiency is a rare, genetic bleeding disorder characterized by deficiency of clotting factor xiii. Stable blood clots do not form if you are missing or have too little of both of these factors. Factor xiii is one of the factors that plays a unique role in helping. 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. B subunits are found primarily in plasma, either free or in association with a subunits as part of the heterotetrameric form of fxiii.
Factor xiii deficiency resulting from inherited or acquired causes can result in pathological bleeding episodes. A diverse spectrum of mutations have been reported in the fa1 and fb genes. Signs and symptoms occur as the result of a deficiency in the blood clotting factor, which is responsible for. Inhibitors were reported in 3 of 72 patients with factor xiii deficiency 4 percent, although only one was. 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. Congenital fxiii deficiency can be due to defects in either fxiii.
Factor xi fxi deficiency, also known as haemophilia c, is an inherited bleeding disorder. This is different than just factor v deficiency or factor viii deficiency hemophilia a. Factor xiii deficiency nord national organization for. A new era of therapy for congenital factor xiii deficiency. Factor xiii deficiency genetics home reference nih. Factor xiii deficiency related recurrent spontaneous. Factor vii seven deficiency is a disorder caused by a lack of a protein called factor vii in the blood. Most experts suggest a level of approximately 30 to 45 percent. Included are preparations derived from human plasma antihemophilic factor, cryoprecipitated antihemophilic factor or porcine plasma antihemophilic factor. Factor xiii deficiency is an inherited bleeding disorder.
Factor xiii 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. Effects of factor xiii deficiency on thromboelastography. By crosslinking fibrin chains and alpha 2 plasmin inhibitor to fibrin, fxiiia mechanically stabilizes fibrin and protects it from fibrinolysis.
It is inherited in an autosomal recessive fashion, meaning that both parents must carry the gene to pass it on to their children. Factor xiii deficiency is normally treated with fresh frozen plasma, cryoprecipitate or. Hematologic etiologies commonly involve disruption of acquired or inherited coagulation factor production with either a quantitative or qualitative factor deficiency. Again unlike other coagulation factors, which function. Fxiii is also known as fibrinstabilizing factor and is responsible for crosslinking of the fibrin polymer. If the condition is not treated, affected individuals may have episodes of excessive and. Factor vii deficiency and factor x deficiency and very rare disorders individually. Factor xiii deficiency, a primer for anesthesiologist medigraphic. Factor xiii is the protein responsible for stabilizing the formation of a blood clot. If you have problems viewing pdf files, download the latest version of adobe reader. Plasma fxiii is a heterotetramer consisting of 2 identical proenzyme subunits a 2 and 2 identical carrier protein subunits b 2.
Congenital factor xiii deficiency is an autosomal recessive bleeding disorder. I had some hematology work done and discovered that i hadhave a mild factor viii deficiency aka hemophilia a. Factor x deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of the gums, blood in the urine hematuria, and prolonged or. Factor xiii deficiency what is factor xiii deficiency. Studies specifically examining cerebrovascular accidents in adults under the age of 45. 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. Factor xiii deficiency occurs exceedingly rarely, causing a severe bleeding tendency. For language access assistance, contact the ncats public information officer. Differently from all other congenital haemostatic protein deficiencies, in congenital fxiii deficiency typical coagulation screening tests and platelet function tests are. Researchers have identified an inherited form and a less severe form that is acquired during a persons lifetime. Factor xiii or fibrin stabilizing factor is a zymogen found from the blood of humans and some other animals. Factor xiii deficiency is associated with severe life threatening bleeding. Fxiiid diagnosis requires the assessment of fxiii activity, specific antigen immunoassays, inhibitor assays, and genetic studies. There is marked phenotypical variability leading to a spectrum of severity as outlined above.
Factor xiii deficiency leads to abnormal and prolonged bleeding due to ineffective clot formation. 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. The free activation peptide ap factor xiii reduces further factor. Factor xiii deficiency fxiiid is an extremely rare bleeding disorder that may be inherited in an autosomal recessive manner, or acquired as an autoimmune disease. Factor xiii deficiency fxiiid is a rare bleeding disorder with an estimated prevalence of 1 in 2million population worldwide. Factor xi deficiency haemophilia foundation australia.
People with congenital or inherited factor xiii deficiency are born with low levels of factor xiii in the blood. Individuals with this disorder form clots, but they are unstable and fail to work. Specifically, individuals with factor xiii deficiency form blood clots like normal, but these clots are unstable and often break down. Download fulltext pdf download fulltext pdf a practical approach in laboratory and molecular diagnosis of factor xiii deficiency article pdf available july 2016 with 102 reads. Factor xiii deficiency haemophilia foundation australia. Today marks 3 weeks postop and the removal of my compression vest. Pathophysiology structure, production, and halflife of fxiii. Factor xiii deficiency the medical biochemistry page. It is the rarest factor deficiency, occurring in 1 per 5 million births. When you bleed, a series of reactions take place in the body that helps blood clots form. Congenital factor xiii deficiency what are rare bleeding disorders. 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. Aug 16, 2011 factor xiii deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding.
The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor v and factor viii deficiency rare bleeding disorders. This form of the disorder is referred to as type ii factor xiii deficiency. Factor xiii deficiency is an autosomal recessive disorder. 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. It leads to problems with blood clotting coagulation.
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