Even though the initial clot forms and bleeding stops, the. In severe factor xiii deficiency, life threatening bleeding can occur, particularly intracranial bleeding. Factor xiii deficiency research and support difficult. Deficiency of coagulation factor xiii a subunit caused by. Factor xiii deficiency anwar 1999 british journal of. Signs and symptoms of inherited factor xiii deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. Additional document downloads will be added as available. 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 the last enzyme in the clotting cascade. Prior to delving into the clinical and biochemical details which characterize this fascinating clotting factor, it is worth taking a moment to consider this important fact. Factor xiii or fibrin stabilizing factor is a zymogen found from the blood of humans and some other animals. Diagnosis and classification of factor xiii deficiencies. 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. Therefore, if the diagnosis of severe congenital fxiii deficiency is confirmed.
The inherited form of factor vii deficiency, known as congenital factor vii deficiency, is caused by mutations in the f7 gene, which provides instructions for making a protein called coagulation factor vii. The severity of factor xiii deficiency bleeds can vary greatly from one person to another. Xiiia is an enzyme of the blood coagulation system that crosslinks fibrin. Congenital factor xiii deficiency is very rare, affecting only 1 in 2 million people about 100125 people in the us. The aim of this study was to assess molecular characteristics, clinical. A 2 b 2 consisting of two catalytic a subunits fxiii. Patients present with bleeding and delayed wound healing usually first noted at the umbilical stump or after circumcision. Factor xiii deficiency leads to abnormal and prolonged bleeding due to ineffective clot formation.
Inherited factor xi deficiency can be categorized as severe or partial based on the factor xi activity. Factor xiii fxiii is a plasma transglutaminase that crosslinks fibrin monomers. Congenital factor xiii deficiency is an inherited bleeding disorder due to reduced levels and activity of factor xiii fxiii and characterized by. 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. These genes provide instructions for making the two parts subunits of a protein called factor xiii. If the condition is not treated, affected individuals may have episodes of excessive and prolonged bleeding that can be lifethreatening. Inherited factor xiii fxiii deficiency is a rare bleeding disorder that. Congenital fxiii deficiency may manifest as a lifelong bleeding tendency, abnormal wound healing, and recurrent miscarriage. Acquired forms of factor xiii deficiency have been reported in association with liver failure, inflammatory bowel disease, and. Severe congenital factor xiii subunit a deficiency is an ex tremely rare, autosomal recessive disorders. The zymogen plasma fxiii pfxiii circulates in plasma as a tetramer fxiii.
Deficiency of xiii worsens clot stability and increases bleeding tendency. Having hemophilia and other bleeding disorders can mean coping with various complications that can arise throughout the patients lifetime. Some patients have more severe complications, while others have only mild complications. In addition to its essential role in hemostasis, fxiii is involved in maintenance of pregnancy, wound healing, and angiogenesis. Factor xiii deficiency is a rare, genetic bleeding disorder characterized by deficiency of clotting factor xiii. To understand the molecular pathology of fxiii deficiency in vivo, its knockout mice have been functionally analyzed. Identification of a new leu354pro mutation responsible for factor xiii deficiency. Factor xiii deficiency is one of the most rare coagulation factor deficiencies. Researchers have identified an inherited form and a less severe form that is acquired during a persons lifetime. Its main function is to convert the loose fibrin polymer into a firm, highly organized, cross.
Most are due to mutations in the a subunit gene located on chromosome 6p25p24. Factor xiii deficiency is an extremely rare inherited blood disorder. Factor xiii deficiency is a rare inherited coagulopathy. Factor xiii deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. It is inherited from both parents and affects men and women equally. Factor xiii deficiency is a rare genetic disorder in which blood clots break down, leading to recurrent bleeding.
Inherited factor xiii deficiency results from mutations in the fa1 gene or, less commonly, the fb gene. Factor xiii deficiency is a rare bleeding disorder. Factor xiii fxiii deficiency is an extremely rare bleeding disorder rbd with estimated incidence of 1 per 2 million. Pdf coagulation factor xiii gene, protein structure and function coagulation factor xiii fxiii is a tetrameric fxiiia2b2 protransglutaminase.
Fxiii deficiency has also been associated with poor wound healing and recurrent miscarriages. People with congenital or inherited factor xiii deficiency are born with low levels of factor xiii in the blood. Intracranial hemorrhage ich is the leading cause of mortality and morbidity in fxiii deficiency. Two novel and one recurrent missense mutation in the factor xiii a gene in two dutch patients with factor xiii deficiency. All routine coagulation tests are normal in fxiii deficiency fxiiid, which complicates the diagnosis of this disorder. Factor xiii deficiency resulting from inherited or acquired causes can result in pathological bleeding episodes. Factor xiii deficiency nord national organization for rare. Factor xiii deficiency occurs exceedingly rarely, causing a severe bleeding tendency. 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. A is produced by cells of bone marrow origin, whereas fxiii. Congenital factor xiii deficiency rare bleeding disorders. Factor xiii deficiency, also known as fibrin stabilizing deficiency, is a rare genetic bleeding disorder. Figure 1 shows what can happen when a carrier of the defective gene has a child with another carrier.
Factor xiii deficiency is an inherited blood clotting disorder that affects females as well as males. This protein plays a critical role in the coagulation cascade, which is a series of chemical reactions that forms blood clots in response to injury. Factor xiii plays an important role in the crosslinking of polymerized fibrin. Affected individuals may bruise easily, extensively. The diagnosis is usually made on high degree of clinical suspicion and falling. Severe deficiency factor xi activity factor xiii deficiency an inherited bleeding disorder. Peyman eshghi,1 nader cohan,2 majid naderi,3 mehran karimi2. Differently from all other congenital haemostatic protein deficiencies, in congenital fxiii deficiency typical coagulation screening tests and platelet function tests are. 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. Inhibitors and other complications national hemophilia. There is a 1in2 chance that a child will be a carrier. A congenital deficiency of the coagulation factor xiii a subunit f xiii a is a rare autosomal recessive disorder that is characterized by a lifelong bleeding tendency complicated by a difficulty in healing. Factor xiii deficiency is a rare autosomal recessive congenital deficiency. Because so few people have factor xiii deficiency, it is difficult to find information on it and doctors who specialize in treating it.
The patients usually present in emergengy with acute abdomen and diagnosis is difficult. Division of hematology, childrens hospital of orange county, orange, ca, usa. Factor xiii fxiii deficiency is a rare hemorrhagic disorder for which the highest incidence occurs in southeast iran. Factor xiii deficiency genetics home reference nih. Factor xiii is the last clotting factor in the coagulation cascade to insure strength and stability to fibrin clots.
Clotting factors are specialized proteins that are essential for the blood to clot properly. Pdf coagulation factor xiii deficiency researchgate. Umbilical cord bleeding, intracranial hemorrhage, bruising, and nose and mouth bleeds can occur in patients with fxiii deficiency. Factor xiii deficiency one of rarest bleeding disorders. Congenital fxiii deficiency causes lifelong bleeding symptoms. Objectives congenital factor xiii fxiii deficiency is a rare severe bleeding disorder.
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. Factor xiii deficiency what is factor xiii deficiency. Factor xiii deficiency is a decrease or absence of factor xiii fibrinstabilizing factor fsf that prevents bloodclot formation and results in a clinical hemorrhagic diathesis. Inherited factor xiii fxiii deficiency is a rare bleeding disorder that can present with umbilical bleeding during the neonatal period, delayed soft tissue bruising, mucosal bleeding and life.
Coagulation factor xiii is a protransglutaminase that has a major role in the final stage of blood coagulation. Congenital factor xiii deficiency other rare bleeding disorders. Inherited factor xiii deficiency is the rarest factor deficiency, occurring in 1 out of 5 million births. Factor xiii deficiency nord national organization for. Silver, for example, only knows of two families with the disorder in northeastern ohio. Factor xiii deficiency, a primer for anesthesiologist medigraphic. 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. Symptoms commonly associated with factor xiii deficiency include chronic nosebleeds epistaxis, bleeding from the gums, discoloration of the skin due to bleeding underneath the skin ecchymoses, and solid swellings of congealed blood hematomas. Factor xiii deficiency an overview sciencedirect topics. This report deals with the genetic form of factor xiii deficiency, which is. 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. Diagnosis and management of severe congenital factor xiii.
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