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PubMed1983

Factor XIII levels in five families of patients with inherited factor XIII deficiency: support for an autosomal recessive inheritance.

Using quantitative methods, f.XIII activity and levels of subunits a and b have been measured in 5 families of 6 patients with inherited XIII deficiency, including 2 children of a XIII deficient male. The parents, as a group, and the children, individually, have low XIII activity and low levels of subunit A when compared to controls. These findings provide further support for an autosomal inheritance of f.XIII deficiency. The measurements, however, did not allow confident selection of individual heterozygotes as has been previously suggested and an explanation of this finding is offered.

Adult↗
PubMed1993

Factor XIII: inherited and acquired deficiency.

Factor XIII (XIII), an enzyme found in plasma (present as a pro-enzyme), platelets and monocytes, is essential for normal haemostasis. It may also have a role to play in the processes of wound healing and tissue repair. Inherited XIII deficiency results in a life-long, severe bleeding diathesis which, if untreated, carries a very high risk of death in early life from intracranial bleeding. XIII is a zymogen requiring thrombin and calcium for activation. In plasma, XIII has two subunits: the 'a' subunit, which is the active enzyme, and the 'b' subunit which is a carrier protein. Activated XIII modifies the structure of clot by covalently crosslinking fibrin through an epsilon (gamma-glutamyl)lysine link. It also crosslinks other proteins, including fibronectin and alpha-2-plasmin inhibitor (alpha-2PI), into the clot through the same link. Clot modified by XIII is physically stronger, relatively more resistant to fibrinolysis and may be a more suitable medium for the ingrowth of fibroblasts. Inheritance of factor XIII is autosomal recessive. The majority of patients with the inherited defect show no XIII activity and absence of 'a' subunit protein in plasma, platelets and monocytes. At the molecular level, the defect is not a major gene rearrangement or deletion, but most likely a single point mutation which may be different in each family. Because of the severity of the bleeding diathesis, prophylaxis is desirable and has been shown to be very effective as the in vivo half-life of plasma XIII is long, and low plasma levels are sufficient for haemostasis. Acquired inhibitors have been reported in only two cases with inherited XIII deficiency. Acquired XIII deficiency has been described in a variety of diseases and bleeding has been controlled by therapy with large doses of XIII in such conditions as Henoch-Schönlein purpura, various forms of colitis, erosive gastritis and some forms of leukaemia. Large dose XIII therapy has also been used in an endeavour to promote wound healing after surgery and bone union in non-healing fractures. The use of XIII in these conditions remains controversial. Very rarely a bleeding diathesis results from the development of a specific inhibitor to XIII arising de novo, often as a complication in the course of a disease or in association with long-term drug therapy. The bleeding diathesis in these patients is difficult to treat.

Amino Acid Sequence↗
PubMed1985

Tooth extraction in two patients who had a congenital deficiency of factor XIII.

Two cases of the extraction of deciduous teeth in unrelated patients who had congenital Factor XIII deficiency are reported. The modes of inheritance of the deficiency are discussed, and methods of screening, diagnosis, and treatment are suggested. A combination of a local hemostatic treatment and transfusion of Factor XIII concentrate resulted in the sockets healing without further postoperative bleeding in both cases.

Child↗
PubMed2003

Deficiency of factor XIII gene in Chinese: 3 novel mutations.

A defect in the factor XIII gene can result in lifelong bleeding tendency. In 3 Chinese families, hereditary coagulation factor XIII deficiency was diagnosed on the basis of the clinical syndrome and solubility of fibrin clot in 5 mol/L urea. We sequenced all of the FXIIIA gene exons and the flanking region and found 3 novel defects in the factor XIII gene. First, C --> G transition at nucleotide (nt) position 1241 in exon 10 results in substitution of Ser413 with Trp. Second, C --> T transition at nt232 in exon 3 results in Arg 77 --> Cys. The third mutation is in exon 5: del-aa at nt598 (codon 191) causes frameshift and premature termination. In the cytoplasm of 3 probands the FXIII gene was normal at the messenger RNA level. Three mutations may affect FXIIIA protein conformation or incorrect protein folding and lead to formation of mutant FXIII that is very unstable and rapidly degraded in cytoplasm.

Adolescent↗
PubMed1977

Congenital deficiency of factor XIII with normal subunit S and lack of subunit A. Report of a new family.

Two sisters born from a nonconsanguineous marriage were found to have congenital factor XIII deficiency. In the electroimmunoassay system, using an anti-subunit S antiserum, two distinct peaks or rockets were seen in normal plasma and serum whereas only one peak was present in the propositae plasma or serum. In the bidimensional immunoelectrophoresis system, using the anti-subunit S antiserum, two major peaks were seen in normal plasma whereas only one peak was seen in the propositae plasma. Using an anti-subunit A antiserum no peak or precipitate was seen in our propositae in the electroimmunoassay or in the bidimensional immunoelectrophoresis systems. Both the parents and the children of our two propositae showed a normal coagulation pattern. Therefore, the heredity appears to be autosomal recessive. These data indicate that the defect is characterized by a normal factor XIII subunit S (support) and a lack of factor XIII subunit A (activity).

Adult↗
PubMed1999

Prenatal diagnosis in factor XIII-A deficiency.

Congenital factor XIII deficiency is a severe bleeding disorder that is inherited as an autosomal recessive trait. The condition is commonly due to absence of the factor XIII-A subunit protein in the plasma. 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 after circumcision. Family studies were performed and molecular analysis, using a Short Tandem Repeat (STR) marker closely linked to the A subunit gene, allowed antenatal exclusion diagnosis to be undertaken in a subsequent pregnancy. The case highlights the importance of seeking a family history of bleeding disorders before surgery in the neonatal period, particularly if the parents are consanguineous.

Consanguinity↗
PubMed1988

Intracranial hemorrhage in congenital deficiency of factor XIII.

We describe a male infant with congenital deficiency of coagulation Factor XIII who presented in the immediate postnatal period with umbilical stump bleeding and suffered a severe intracranial hemorrhage at 2 months of age. Factor XIII, also known as "fibrin-stabilizing factor," is a transpeptidase that produces strong covalent bonds between soluble fibrin monomers formed during coagulation. Presumptive diagnosis of Factor XIII deficiency was made with a clot solubility screening test, and confirmation was accomplished by demonstrating the absence of cross-linked fibrin chains by electrophoresis. This patient had received replacement therapy for 2 years, initially with intravenous fresh frozen plasma, and recently with Fibrogammin (Hoechst-Roussel Pharmaceuticals), a European Factor XIII concentrate soon to be available in the United States. Factor XIII deficiency is associated with a high incidence of life-threatening complications, notably intracranial hemorrhage. In light of the long half-life of this factor and the relatively low risk associated with new Factor XIII concentrates, such as Fibrogammin, prophylactic life-long replacement therapy should be considered for patients with severe Factor XIII deficiency.

Cerebral Hemorrhage↗
PubMed1977

[Severe factor XIII-deficiency. Studies on subunits and turnover of the fibrin stabilizing factor (author's transl)].

An infant with congenital homozygous factor XIII deficiency demonstrated a severe retroperitoneal and intracerebral bleeding with development of a posthemorrhagic hydrocephalus in the first months of life. Factor XIII activity was not measurable by means of enzymatic method and the antiserum inhibition test. Quantitative immunoelectrophoresis according to Laurell presented absence of the subunit A, whereas the concentration of subunit S was reduced to 47% the normal value. After replacement therapy factor XIII activity was estimated at 23% and corresponded to the concentration of the subunit A, concentration of subunit S increased by 20%. The turnover rate of fibrin stabilizing factor could be observed over a period of 39 days. The half life was estimated at 4,7 days. The child developed normally after continous substitution with 250 units of factor XIII concentrate every 6 weeks.

Cerebral Hemorrhage↗
PubMed2005

Congenital deficiency of factor XIII caused by two missense mutations in a Dutch family.

We present the clinical, biochemical and genomic findings of a family with congenital factor XIII (FXIII) deficiency. Congenital FXIII deficiency is a very rare autosomal recessive bleeding disorder, characterized by umbilical cord bleeding at birth and spontaneous intracranial haemorrhage. Routine clotting tests are normal, which may delay the diagnosis, leading to an increased chance of severe sequelae. The propositus and her brother, known with haemorrhagic diathesis, were found to be compound heterozygous with a known missense mutation (1050 G --> T transversion in exon 7, Val316Phe substitution) and a novel mutation 889 G --> A in exon 6, which predicts a Gly262Glu substitution. As these mutations were known in the family, DNA obtained from cord blood of the youngest sister was analysed for mutations in exons 6 and 7 only. We postulate that the diagnosis was facilitated by determining the two different mutations in the genotype of this family. The analysis showed that she was heterozygous for the exon 7 mutation. Hence, she was not at risk of experiencing haemorrhagic diathesis. This diagnosis avoided the administration of FXIII concentrate to the newborn.

Adult↗
PubMed1984

[3 operated cases of congenital deficiency of Factor XIII associated with intracranial hematomas].

Three operated cases of congenital deficiency of factor XIII (fibrin-stabilizing factor) associated with intracranial hematomas were described and the diagnosis, replacement therapy of the factor were discussed. Congenital deficiency of factor XIII is quite rare coagulation disorder and only 100 patients were reported in the literatures in which we could find only one case who had craniotomy for associated intracranial hemorrhage. Case 1: A 41-year-old female with the history of unknown hemorrhagic diathesis complained of headache and right hemiparesis on August 2, 1980. CT scan showed left parietal intracerebral hematoma caused by unknown hemorrhagic diathesis and operated on under fresh blood transfusion. Postoperative state was uneventful but bleeding from the operated wound and rebleeding in the operated hematoma cavity were found on 5th postoperative day. The screening test for factor XIII was abnormal but replacement therapy with fresh plasma and factor XIII failed to control hemorrhagic diathesis. The patients died of GI bleeding and recurrent intracerebral hematoma on 21st postoperative day. Case 2: A 1.4-year-old boy with the history of umbilical bleeding on delivery and diagnosed as congenital deficiency of factor XIII in the other hospital fall down and struck his occiput on September 20, 1980. He vomited and became stuporous two days after injury, and was transferred to Ryukyu University Hospital. CT can revealed epidural hematoma at the left posterior fossa which extended to the supratentorium. The hematoma was successfully evacuated under infusion of fresh plasma and he showed uneventful recovery without rebleeding by postoperative appropriate replacement therapy.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗