Lippincott williams and wilkins, philadelphia, pp 317334. Factor xii deficiency genetic and rare diseases information. A few cases of acquired fxiii deficiency have also been described. 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 is an autosomal recessive disorder. Signs and symptoms of inherited factor xiii deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. The role of factor xiii in hemostasis is to stabilize newly formed clots by crosslinking fibrin monomers. Deficiency of xiii worsens clot stability and increases bleeding tendency. Fxiii deficiency is a rare disorder that presents with recurrent soft tissue bleeding. Factor xiii deficiency haemophilia foundation australia.
The genetics of this factor deficiency appeared to be autosomal recessive in all. To describe one of the youngest reported patients with this condition. Aug 28, 2012 factor xiii fxiii is activated by thrombin to form a transglutaminase fxiiia that stabilizes clot formation by the cross. Factor xiii deficiency with a novel nonsense mutation. Factor xiii deficiency, a primer for anesthesiologist medigraphic. Coagulation factor xiii fxiii is a fibrinstabilizing factor with additional roles in wound. May 31, 2012 treatment of patients with congenital fxiii deficiency normally consists of prophylactic administration of plasmaderived pasteurized fxiii concentrate every 4 to 6 weeks at a dosage ranging from 10 to 35 ukg. Deficiency of fxiii is associated with reduced clot stability, and therefore ecchymoses or. Factor xiii deficiency genetics home reference nih. Oct 22, 20 this case was young boy with severe bleeding diathesis and in laboratory assessments his clot was unstable in 5 m urea. Factor xiii fxiii is activated by thrombin to form a transglutaminase fxiiia that stabilizes clot formation by the cross. For factor xiii, the average decrease in all patients is from 112. Factor xiii fxiii deficiency is a rare bleeding disorder, which can result in life threatening hemorrhage.
This suggesting thesuggest the presence of factor xiii deficiency in this patient. Congenital fxiii deficiency is a rare bleeding disorder, with an. The condition is commonly due to absence of the factor xiiia subunit protein in the plasma. Factor xiii deficiency nord national organization for rare. Factor concentrates for the treatment of factor xiii deficiency. Manno, in blood banking and transfusion medicine second edition, 2007. Factor xiii deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing.
May 31, 2012 congenital factor xiii fxiii deficiency is a rare, autosomalrecessive disorder, with most patients having an asubunit fxiiia deficiency. Jun 24, 2011 factor xii deficiency is an inherited disorder that affects a protein factor xii involved in blood clotting. Individuals with this disorder form clots, but they are unstable and fail to work. Aug 01, 2019 inbal a, oldenburg j, carcao m, rosholm a, tehranchi r, nugent d. By crosslinking fibrin chains and alpha 2 plasmin inhibitor to fibrin, fxiiia mechanically stabilizes fibrin and protects it from fibrinolysis.
Novel treatment for congenital fxiii deficiency blood. Factor xiii deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Diagnosis and management of severe congenital factor xiii. Factor xiii deficiency leads to unstable clots that eventually break down, increasing the risk of spontaneous hemorrhage. A deficiency in factor xiii leads to unstable clots that. 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.
First recombinant factor xiii approved nature biotechnology. Factor xiii deficiency genetic and rare diseases information. Colmam rw, hirsh j, marder vj, george jn eds hemostatis and thrombosis. Factor xiii is the last clotting factor in the coagulation cascade to insure strength and stability to fibrin clots. Plasma levels as low as 1% to 2% are usually adequate for hemostasis. 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. Factor xiii fxiii deficiency is an extremely rare bleeding disorder rbd with estimated incidence of 1 per 2 million. Biology of factor xiii and clinical manifestations of factor. When cord stump bleeding occurs in the early newborn period, especially in babies who have received vitamin k, factor xiii deficiency should be remembered. Factor xiii fxiii, when activated, catalyzes the polymerization of fibrin monomers to a stable clot that is insoluble in 5 m urea. Inhibitors were reported in 3 of 72 patients with factor xiii deficiency 4 percent, although only one was.
Factor xiii deficiency with intracranial haemorrhage bmj. Researchers have identified an inherited form and a less severe form that is acquired during a persons lifetime. 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. Fxiii is also known as fibrinstabilizing factor and is responsible for crosslinking of the fibrin polymer. List of factor xiii deficiency medications 3 compared. Factor xiii fxiii deficiency is a rare bleeding disorder, however, once present, complications can be easily prevented by transfusing the concentrated factor or in recombinant form. 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. Male fertility in factor xiii deficiency fertility and sterility. There was no improvement in the clinical condition of the patient and investigations revealed spontaneous intracranial haemorrhage ich secondary to factor xiii deficiency. Differently from all other congenital haemostatic protein deficiencies, in congenital fxiii deficiency typical coagulation screening tests and platelet function tests are. In addition to the above deficiency, two of the three propositi and two siblings were mildly deficient in factor xii. I suggested the factor xiii deficiency conclusion could be false, based on a false positive urea solubility assay.
Strabismologist, who operates frequently on paediatric cases should be aware of this disease. Xiiia is an enzyme of the blood coagulation system that crosslinks fibrin. In iran, a middle eastern country with a high rate of. Factor xiii deficiency leads to abnormal and prolonged bleeding due to ineffective clot formation. Figure 1 shows what can happen when a carrier of the defective gene has a child with another carrier.
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 fxiii deficiency is an extremely rare bleeding disorder. Most cases of congenital factor xiii deficiency result from mutation in the a subunit kangsadalampai et al. Prenatal diagnosis in factor xiiia deficiency adc fetal. Laboratory diagnosis of factor xiii deficiency in developing. Factor xiii concentrate is the preferred therapy, and if. Although rare, fxiii deficiency is characterized by variable bleeding manifestations depending on the magnitude of the deficiency. I suggested the factor xiii deficiency conclusion could be false, based on. 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.
A preoperative factor xiii factor xiii deficiency fxiiid is a rare bleeding disorder with an estimated prevalence of 1 in 2million population worldwide. Treatment of patients with congenital fxiii deficiency normally consists of prophylactic administration of plasmaderived pasteurized fxiii concentrate every 4 to 6 weeks at a dosage ranging from 10 to 35 ukg. The case histories of 6 fxiiideficient patients were examined to assess the influence of early versus delayed diagnosis and replacement therapy. Factor xiii deficiency resulting from inherited or acquired causes can result in pathological bleeding episodes. Nugent division of hematology, childrens hospital of orange county, orange, ca, usa summary. People with congenital or inherited factor xiii deficiency are born with low levels of factor xiii in the blood. If the condition is not treated, affected individuals may have episodes of excessive and. Pdf the plasma circulating zymogenic coagulation factor xiii fxiii is a. The parents and a sibling of the first patient were shown to be heterozygotes by assays for this factor. Congenital fxiii deficiency is a rare bleeding disorder, with an autosomal recessive trait inheritance, and. Aug 16, 2011 factor xiii deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. In addition to its essential role in hemostasis, fxiii is involved in maintenance of pregnancy, wound healing, and angiogenesis. The incidence of factor xiii deficiency has been estimated to be between 1 in 2,000,0005,000,000 people in the general population.
Congenital factor xiii fxiii deficiency is a rare, autosomalrecessive disorder, with most patients having an asubunit fxiiia deficiency. Inbal a, oldenburg j, carcao m, rosholm a, tehranchi r, nugent d. Factor xiii or fibrin stabilizing factor is a zymogen found from the blood of humans and some other animals. The objectives of this study were 1 to assess the importance of an early diagnosis for factor xiii fxiii deficiency, and 2 to investigate the molecular basis and mechanisms of disease in the patients under study. Factor xiii fxiii, or fibrin stabilizing factor, deficiency was first reported in the literature in 1960. Factor xiii fxiii deficiency is a rare congenital bleeding disorder estimated to affect 1 in 2 million live births. Patients with factor xiii deficiency have bleeding despite a normal pt, aptt, and platelet count. Greenberg cs, sane dc, lai ts 2006 factor xiii and fibrin stabilization. It is the rarest factor deficiency, occurring in 1 per 5 million births. Congenital factor xiii deficiency is very rare, affecting only 1 in 2 million people about 100125 people in the us. Factor xiii deficiency is an inherited blood clotting disorder that affects females as well as males.
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 xiii deficiency leading to preseptal haematoma post. Factor xiii deficiency is an extremely rare inherited blood disorder. It is inherited in an autosomal recessive fashion, meaning that both parents must carry the gene to pass it on to their children. Apr 22, 20 factor xiii fxiii deficiency is a rare bleeding disorder, which can result in life threatening hemorrhage. Congenital factor xiii deficiency is a severe bleeding disorder that is inherited as an autosomal recessive trait. 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. Individuals of any race or ethnicity can be affected. 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. Factor xiii deficiency is a rare bleeding disorder. Factor xiii fxiii is unique among clotting factors for a number of reasons.
Patients experience lifethreatening bleeds, impaired wound healing, and spontaneous abortions. Factor xiii deficiency fxiiid is a rare bleeding disorder with an estimated prevalence of 1 in 2million population worldwide. Pdf coagulation factor xiii gene, protein structure and function coagulation factor xiii fxiii is a tetrameric. Even though the initial clot forms and bleeding stops, the clot will eventually break down. Recurrent hematomas following a revision total hip.
Factor xii deficiency is an inherited disorder that affects a protein factor xii involved in blood clotting. Although rare, fxiii deficiency is characterized by variable bleeding manifestations depending on. Rarer still is acquired fxiii deficiency, in which the disorder is due to autoantibodies that inhibit the factor. 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 an overview sciencedirect topics.
Factor xiii deficiency affects males and females in equal numbers. In severe factor xiii deficiency, life threatening bleeding can occur, particularly intracranial bleeding. Factor xiii deficiency nord national organization for. Factor xiii deficiency is a rare inherited coagulopathy. Delayed umbilical bleedinga presenting feature for factor. Congenital factor xiii deficiency 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. This case was young boy with severe bleeding diathesis and in laboratory assessments his clot was unstable in 5 m urea. Deficiency of factor xiii during and after cpb has been described, although the importance of this finding is uncertain. The condition is commonly due to absence of the factor xiii a subunit protein in the plasma. In this case report, we describe a patient with recurrent hematomas, following a revision total hip arthroplasty tha. Pdf coagulation factor xiii deficiency researchgate. A 5yearold girl presented to paediatric emergency with fever and seizures for a short duration. Even though the initial clot forms and bleeding stops, the. Factor xiii deficiency is an inherited bleeding disorder.
At first, meningitis was suspected and management was started empirically. 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 bleeding manifestations of these cases are solely due to factor. Additional document downloads will be added as available. Factor xiii deficiency occurs exceedingly rarely, causing a severe bleeding tendency. Factor xiii deficiency, also known as fibrin stabilizing deficiency, is a rare genetic bleeding disorder. Congenital factor xiii deficiency with the presence of inhib. They have normal pt and aptt tests but increased clot solubility. Coagulation factor xiii gene, protein structure and function coagulation factor xiii fxiii is a tetrameric. 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. Current understanding in diagnosis and management of factor.
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