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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↗
PubMed1995

Factor XII deficiency and cardiopulmonary bypass.

Factor XII initiates the intrinsic coagulation cascade and may affect the fibrinolytic system. Routine coagulation tests used during cardiopulmonary bypass (CPB) are abnormal in factor-XII-deficient patients and are useless for monitoring anticoagulation in these patients. A factor-XII-deficient patient requiring CPB is described. The baseline celite activated clotting time (ACT) was greater than 1400 seconds and the thrombin time was 12.4 seconds (control, 11.9 seconds). Two units of plasma were given resulting in an ACT of 173 seconds. Following 300 units/kg of heparin and during CPB, the ACT ranged from 670-596 seconds with the thrombin time greater than 200 seconds. Plasma provides exogenous factor XII allowing an endpoint on the ACT test and may protect against possible postoperative hypofibrinolytic complications. A commercially available modified thrombin time may also be useful and provide an endpoint during high-dose heparinization.

Aged↗
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↗
PubMed1984

Factor XII deficiency in a man with gout and angioimmunoblastic lymphadenopathy.

A patient with factor XII deficiency, gout, and angioimmunoblastic lymphadenopathy (AIL) was seen initially for an acute myocardial infarction, gout, and unexplained urticaria. The patient eventually was found to have AIL and a prolonged partial thromboplastin time. There was no evidence of a circulating anticoagulant. A factor XII deficiency (Hageman factor) was discovered. The coexistence of a factor XII deficiency, AIL, and gout in the same person raises some interesting questions regarding the basic mechanisms of the inflammatory process.

Factor XII Deficiency↗
PubMed1993

[Recurrent venous thromboses in hypoplasia of the vena cava inferior and factor XII deficiency].

The cause of recurrent pelvic and leg venous thromboses in a 24-year-old man was found to be a combination of two rare anomalies, hypoplasia of the hepatic, prerenal segment of the inferior vena cava and factor XII deficiency (factor XII activity 38%, its antigen 39% of normal), the latter considered a risk factor for thromboembolism. Subsequent fibrinolysis was not successful. No thromboembolic phenomena occurred during the following 16 months of oral anticoagulation with phenprocoumon. When this treatment was discontinued at the patient's behest, there was a recurrence on the contralateral side. Anticoagulation was resumed and has continued now for 1 1/2 years without recurrence. The patient has been largely free of symptoms. Permanent anticoagulation thus seems unavoidable in this case.

Adult↗
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↗
PubMed1993

[The genetics of factor XII deficiency].

There are two main forms of factor XII deficiency: patients with immunological cross-reacting material (CRM+) and patients without (CRM-). For 1 case of CRM+ an amino acid substitution (Cys571-->Ser) has been described. We are currently investigating two families of Hageman CRM- trait with the typical hemostaseological pattern: one member with virtually no factor XII activity and antigen, whose sisters and children have about 50% of activity and antigen. To elucidate the genetic defect, primers were synthesized for both exon-intron borders for each of the 14 exons. Polymerase chain reaction (PCR) was performed for each single exon and for any two exons in a row with the intron in between (double-exon screening). We were able to demonstrate that homozygous patients do not have major rearrangements, deletions or insertions of the factor XII gene. To localize the molecular defect, the complete gene was sequenced by cloning the PCR products into pBS. In 1 patient, a single base deletion in exon 12, leading to a nonsense protein, was detected. The propositus was shown to be heterozygous for this defect by a deletion-specific restriction fragment length polymorphism of the PCR product.

Base Sequence↗
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↗
PubMed1980

Recurrent thrombosis in a patient with factor XII deficiency.

The case history of a patient with moderate factor XII deficiency and recurrent deep vein thrombosis is described. A decreased resting fibrinolytic capacity suggests that 'in vivo' Hageman factor acts mainly as a promotor of clot dissolution. It further indicates that the in vitro demonstration of factor XII as an activator for other biochemical pathways might be of minor importance in vivo, as alternative pathways for activation of these systems exist.

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↗