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Results for “Factor XII Deficiency”

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At least 19 recordsLinked to original sources

PubMed1985

Combined dys-form of homozygous factor XI deficiency and heterozygous factor XII deficiency.

A 12-year-old girl with lifelong hemorrhagic episodes was found to have both a dys-form of homozygous factor XI deficiency and heterozygous factor XII deficiency. The heredity of the coagulation defects was confirmed by family studies. Severe bleeding after dental surgery occurred in spite of replacement therapy and local measures including fibrin glue. Our findings suggest that the risk of bleeding in patients with homozygous factor XI deficiency must not be underestimated and that the most effective measure is the transfusion of sufficient amounts of fresh frozen plasma until at least the 5th postoperative day.

Blood Transfusion↗

PubMed1985

[Hageman factor deficiency (factor XII)--hemorrhage or thrombosis?].

Four generations of a kin with congenital Factor XII deficiency were examined for coagulation and fibrinolysis, with the homozygous female carrier of features with a Factor XII below 1% also revealing certain indications of a disturbed fibrinolysis. The other members of the family had to be evaluated as heterozygous ones, showing values of Factor XII between 40 and 60%. The findings are discussed by referring to data from literature.

Blood Coagulation Tests↗

PubMed1975

[Is factor XII deficiency a contraindication to surgery?].

The case of an 18-year-old girl with a moderately severe Hageman factor deficiency (Factor XII 2.5%) is described. In this girl, an osteotomy of the pelvis after Chiari was carried out. Both the operation itself and the postoperative healing process were without complications and no signs of any abnormal tendency to haemorrhage were observed. Blood transfusions were not necessary. On the basis of this observation and a review of the literature for the attempt is made to establish general guide lines the procedure to be adopted for surgery in cases of Hageman factor deficiency.

Blood Coagulation Disorders↗

PubMed1991

Factor XII deficiency and pregnancy.

A 19-year-old primigravida with known factor XII deficiency (prepregnant factor XII level of 21%) presented with placental abruption and preterm labor at 26 weeks' gestation. A healthy 925-g female infant was born by spontaneous vaginal delivery. The mother had no postpartum hemorrhage or further complications, and the infant demonstrated no intracranial or other forms of hemorrhage up to 70 days of age. The infant's factor XII level was 34% (normal for her age). There are only two previous reports of factor XII deficiency in pregnancy cited in the English literature, and both were uncomplicated. In view of the risk of thromboembolic complications in nonpregnant individuals with factor XII deficiency, pregnant women with a prolonged activated partial thromboplastin time and no lupus anticoagulant or anticardiolipin antibody syndrome should also be investigated for deficiencies of factors VIII, IX, and XII. These patients should be given the appropriate counseling and should be monitored for features of thromboembolism if factor XII deficiency is confirmed.

Abruptio Placentae↗

PubMed1989

Clinical implications of factor XII deficiency.

A patient with known factor XII deficiency underwent extraction of four impacted third molars. Significant preoperative laboratory values included a partial thromboplastin time (PTT) of greater than 100 seconds and a factor XII level of less than 1%. The third molars were removed without any significant intraoperative or postoperative bleeding. Factor XII not only has an important function in the initiation of the intrinsic pathway of the coagulation cascade, but it also plays a significant role in complement activation, kinin generation, and fibrinolysis. It would seem that a deficiency in this factor would have widespread clinical implications. In fact, the only clinical significance seems to be a predisposition to thromboembolism in factor XII deficient patients.

Adolescent↗

PubMed1987

Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme.

A cDNA for coagulation factor XII has been used to investigate the presence of gene lesions and restriction fragment length polymorphisms in two brothers with Hageman trait and their family. A TaqI polymorphic fragment has been found in the two propositi and in 11 members of the paternal lineage. This polymorphism, absent in the normal population, is correlated with the reduction of factor XII activity and enables the identification of heterozygous factor XII deficiency. Factor XII gene deletion as the cause of Hageman trait in this family has been excluded. A restriction map has been constructed, and the TaqI polymorphic site has been localized within the 5' portion of the gene. The mutation in the polymorphic site is probably the cause of the factor XII deficiency. Data suggest the presence of one factor XII gene per haploid genome.

Collodion↗

PubMed1979

Factor XII deficiency with systemic lupus erythematosus. Biological implications.

A patient with Factor XII (Hageman) deficiency and fulminant systemic lupus erythematosus is presented. The Factor XII deficiency was noted prior to the onset of clinical systemic lupus erythematosus and persisted throughout the patient's course without associated hemorrhagic manifestations. There was no evidence for a circulating anticoagulant. The patient had a rapidly progressive fatal course unresponsive to corticosteroid therapy. Factor XII levels did not increase during therapy with steroids. Despite absence of Hageman factor, evidence for activation of complement by the classic pathway and thromboembolic phenomenon was observed. The role of Factor XII in coagulation and inflammatory pathways and the influence of the factor deficiency on the course of the patient's illness are discussed.

Adolescent↗

PubMed1987

[Tonsillectomy in factor XII deficiency].

A case of tonsillectomy in a 22-year-old female patient suffering from isolated deficiency of factor XII is presented. The importance of close cooperation of surgeon and haemostaseologist is pointed out. Preoperative, intraoperative and postoperative precautions are discussed.

Adult↗

PubMed1978

[Factor XII deficiency - Hageman trait. Report of 2 cases].

For the first time in our literature we have described the two cases of hereditary deficiency of factor XII (Hageman trait), a very rare disorder. It was discovered when a long clotting time was found in our patients during the course of a preoperative evaluation. Abnormal thrombelastogram, with a picture typical for hemophilia, gave as a reason to continue with laboratory investigation. The laboratory findings showed us a very low value of factor XII in one case, and total absence of factor XII in the other.

Adult↗

PubMed1986

Factor XII deficiency and von Willebrand's disease in a family of miniature poodle dogs.

The simultaneous occurrence of factor XII deficiency and von Willebrand's disease (VWD) is described in a family of Miniature Poodles affected concurrently with a familial non-spherocytic hemolytic anemia. Although there was a dominant distribution of factor XII deficiency in this family of dogs, only the dogs suffering from non-spherocytic hemolytic anemia had concurrent VWD gene expression. Neither the factor XII deficient dogs nor the VWD carrier dogs displayed bleeding tendencies.

Animals↗

PubMed1985

Myocardial infarction with normal coronary arteries and factor XII deficiency.

A 17 year old girl had a myocardial infarction. Three days later coronary angiography showed an occlusive thrombus in the circumflex and anterior descending arteries. The coronary arteries themselves appeared to be normal, and this was confirmed at repeat angiography three months later. Tests of haemostasis showed a deficiency of factor XII.

Adolescent↗

PubMedDate not supplied

Fibrinolytic studies in 13 unrelated families with factor XII deficiency.

BACKGROUND AND METHODS: We report the results of extensive "in vitro" fibrinolytic studies in 18 homozygous and 14 obligatory heterozygous subjects belonging to 13 unrelated families with factor XII deficiency. All homozygotes had unmeasurable factor XII activity (XII:C) and antigen (XII:Ag). None had bleeding symptoms, whereas a myocardial infarction occurred in one of them at age 51. In heterozygotes XII:C and XII:Ag were 55.9 +/- 14.1% and 52.1 +/- 16.4% (corresponding figures in 40 normals 100.6 +/- 18.3% and 101.5 +/- 29.7%). Total intrinsic fibrinolytic activity was assayed on fibrin plates in the dextran sulfate euglobulin fraction of plasma from resting subjects, to which flufenamate was added to inhibit blood plasminogen activator inhibitors. RESULTS: Fibrinolytic activity was reduced in all homozygotes (40 +/- 12 BAU/ml) in comparison to heterozygotes (103 +/- 12 BAU/ml) and normals (98 +/- 20 BAU/ml). The addition of purified activated beta-XII led to a complete restoration of fibrinolysis in homozygotes. The addition of anti-urokinase antibodies completely suppressed the reduced intrinsic fibrinolytic activity in homozygotes (4 +/- 7 BAU/ml), whereas a reduction to about 50% was evident in heterozygotes and normals. CONCLUSIONS: Our data confirm that reduced "in vitro" intrinsic fibrinolytic activity is a common finding in homozygous factor XII deficiency and that two independent mechanisms, one factor XII-dependent and urokinase-independent and the other factor XII-independent and urokinase-dependent, are responsible for the generation of intrinsic fibrinolysis in human plasma.

Adolescent↗

PubMed1992

Contact system dependent fibrinolytic activity in vivo: observations in healthy subjects and factor XII deficient patients.

The contribution of activation of the contact system to activation of the fibrinolytic system in vivo was investigated in healthy volunteers and in factor XII deficient patients. The plasminogen activating activity in normal plasma was only partially blocked (for 77%) with specific antibodies to tissue-type plasminogen activator (t-PA) and urokinase-type plasminogen activator (u-PA). The residual activity could be quenched by a monoclonal antibody that inhibits factor XII activity and was not present in patients with a factor XII deficiency. The formation of plasmin upon the DDAVP stimulus as reflected by circulating plasmin-alpha 2-antiplasmin (PAP) complexes was lower in factor XII deficient patients than in healthy volunteers. These results indicate that in vivo the plasminogen activating activity is partially dependent on activation of the contact system. This fibrinolytic activity is impaired in factor XII deficient patients which may explain the occurrence of thromboembolic complications in these patients.

Adult↗

PubMed1979

Acquired factor XII Deficiency in a patient with nephrotic syndrome.

A patient with nephrotic syndrome and an acquired factor XII deficiency associated with a factor XII-like procoagulant activity in the urine was investigated. The urinary protein with procoagulant activity was isolated and comparative investigations revealed similar properties to plasma factor XII. It is suggested that the acquired coagulation defect may result from an insufficient biosynthetic capacity to compensate for the loss of factor XII in the urine.

Adult↗

PubMed1985

[Thrombophlebitis and pulmonary embolism in congenital factor XII deficiency].

The case of a young man hospitalised for bilateral lower limb deep vein thrombosis is reported. None of the usual causes were found after systematic wide-ranging investigation. The only abnormality on admission was a spontaneous increase in the cephalin-kaolin time to 65 seconds compared to a control time of 40 seconds. Measurements of the clotting factors showed a moderate and isolated deficiency in factor XII (30 p. 100), also present in a brother (50 p. 100) and a sister (42.5 p. 100). Fibrinolytic therapy was administered : an initial course of Streptokinase was followed by extension of a left femoral vein thrombosis and pulmonary embolism. Two courses of Urokinase were given with an eight day interval without significantly improving the venous circulation. This case is an example of thrombogenic disease due to a deficiency of a clotting factor resulting in non-activation of physiological fibrinolysis.

Adult↗

PubMed1991

Reduction of contact activation related fibrinolytic activity in factor XII deficient patients. Further evidence for the role of the contact system in fibrinolysis in vivo.

In this study the contribution of activation of the contact system to activation of the fibrinolytic system in vivo was investigated in healthy volunteers and in factor XII deficient patients. The plasminogen activating activity in plasma from healthy volunteers after infusion of desamino D-arginine vasopressin (DDAVP) was only partially blocked (for 77%) with specific antibodies to tissue-type plasminogen activator and urokinase type plasminogen activator. The residual activity could be quenched by a monoclonal antibody that inhibits factor XII activity and was not present in patients with a factor XII deficiency. The formation of plasmin upon the DDAVP stimulus as reflected by circulating plasmin-alpha 2-antiplasmin complexes was lower in factor XII deficient patients than in healthy volunteers. Activation of the contact system occurred after DDAVP infusion in healthy volunteers and was absent in factor XII deficient patients. These results indicate that DDAVP induces a plasminogen activating activity that is partially dependent on activation of the contact system and that contributes to the overall fibrinolytic activity as indicated by the formation of plasmin-alpha 2-antiplasmin complexes. This fibrinolytic activity is impaired in factor XII deficient patients which may explain the occurrence of thromboembolic complications in these patients.

Adult↗

PubMed1979

Effect of factor XII deficiency on pregnancy and parturition.

The clotting parameter of a primigravida with factor XII deficiency was studied during her third trimester of pregnancy, labor and post-partum; and compared with those of her newborn male infant. Sharp increases in factors VII, VIII, IX, X and moderate increases in factors II and XI were documented during pregnancy and at labor. All factors had returned to normal or near normal levels 24 hours after delivery. Factor XII remained at 0.0 level throughout. In the infant the clotting factor levels reflected depression of vitamins K-dependent factors II, IX, and X and a factor XII level of 40.0%. No undue bleeding was noted in the mother at delivery or placental separation, and no bleeding manifestation was apparent in the infant. These findings suggest that factor XII does not play a major role in triggering or modulating the course of normal labor, nor is its absence necessarily associated with bleeding complications during parturition or placental separation.

Adult↗

PubMed1992

A female hemophilia A combined with hereditary coagulation factor XII deficiency: a case report.

A 2-year-old Japanese girl with easy bruising and arthropathy was demonstrated to have severe hemophilia A (Factor VIII activity: less than 0.01 U/ml). She had normal 46XX karyotype. Her brother also had hemophilia A, and her mother and grandmother seem to be hemophiliac carriers. Additionally, activated partial thromboplastin time (APTT) of the patient was disproportionately prolonged and there were reduced levels of coagulation factor XII in the patients and members of the maternal trait which are compatible with heterozygous factor XII deficiency. Her father had both normal factor VIII and factor XII levels. Southern blotting analysis of genomic DNA from the propositus and family members with factor VIII and factor XII DNA probes revealed no gross alterations. This patient represents a female hemophilia A combined with heterozygous factor XII deficiency. Nonrandom inactivation of a normal X-chromosome (extreme lyonization) may be the basis for the expression of hemophilia A in this female patient.

Blood Coagulation↗