PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Factor XII Deficiency”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 73 records · Page 4Linked to original sources
PubMed1988

Oral Mucosa Bleeding Times of Normal Cats and Cats with Chediak-Higashi Syndrome or Hageman Trait (Factor XII Deficiency).

A commercially available, disposable blade in a spring-loaded cassette was used to measure oral mucosa bleeding times (OMBT) of ketamine/acepromazine-anesthetized cats. The OMBT were determined in cats homozygous for Chediak-Higashi syndrome (CHS, n = 7), cats heterozygous for CHS (n = 6), and cats homozygous for Hageman factor (factor XII) deficiency (n = 5). In addition, OMBT were determined in three groups of normal cats: random-source cats (n = 14), inbred normal relatives of the cats with CHS (n = 7), and inbred normal relatives of Hageman factor deficient cats (n = 9). No significant differences were found in the OMBT of the three groups of normal cats. The mean OMBT for all 30 normal cats was 1.9 minutes +/- 0.5 minutes s.d. Compared to the normal cats, those homozygous for CHS had significantly prolonged OMBT (14.1 +/- 3.3 minutes; p < 0.05). The mean OMBT of cats heterozygous for CHS (2.6 +/- 0.8 minutes) was also significantly longer than the OMBT of the combined normal group. The mean OMBT of the CHS heterozygotes, however, was not significantly longer than that of their normal relatives (OMBT = 1.8 +/- 0.5 minutes), probably because of the low number of cats in this subgroup of normals. As expected, the OMBT of cats homozygous for Hageman factor deficiency (2.3 +/- 0.3 minutes) were not significantly prolonged.

Journal Article↗
PubMed1995

[Congenital deficiency of factor Xii and spontaenous venous thrombosis treated with urokinase].

There is a well known relationship between factor XII deficiency and arterial and venous thrombosis. A new case of moderate factor XII deficiency associated to spontaneous deep vein thrombosis and treated with Urokinase is reported. The patient had a partial response to the treatment with Urokinase, with normal study of the fibrinolytic system. The deficiency was found in five relatives within the three generations studied. The genetic transmission had an autosomic dominant pattern. We feel that there is no relationship between the family history or the degree of factor XII deficiency and the risk of developing deep venous thrombosis.

Adult↗
PubMed1994

Coincidence of familial platelet glycoprotein Ib/IX deficiency (Bernard-Soulier syndrome), idiopathic autoantibody against platelet glycoprotein Ib/IX, familial appearance of antiphospholipid antibodies, and familial factor XII deficiency.

The case of an 8-year-old boy with apparently homozygous Bernard-Soulier syndrome (platelet GP Ib/IX complex deficiency) and a transient idiopathic autoantibody against GP Ib/IX is described. He had been diagnosed with chronic autoimmune thrombocytopenia (due to the detection of antiplatelet autoantibodies) before Bernard-Soulier syndrome was proven. Both parents and his brother displayed intermediate deficiency of GP Ib/IX, thus indicating a heterozygote state for Bernard-Soulier syndrome. Alloimmunization as an explanation for the appearance of GP Ib/IX antiplatelet antibodies in the propositus can be excluded. A so-called pseudo Bernard-Soulier syndrome due to selective antibodies was also excluded. Flow cytometric analysis revealed residual expression of 2% GP Ib and 13% GP IX on the propositus' platelets. It seems that the propositus showed an idiopathic autoantibody against a platelet glycoprotein in which he is genetically deficient (but which is not completely lacking). Thus, in patients with untypical behavior upon therapy of "autoimmune thrombocytopenia", other differential diagnoses should also be considered even if antiplatelet antibodies are detected. In addition, all family members displayed elevated concentrations of antiphospholipid antibodies. These findings raise the question of a genetic predisposition for the development of autoantibodies. Moreover, an F. XII deficiency was found in all family members except the mother.

Adult↗
PubMed2000

Factor XII deficiency in women with recurrent miscarriage.

Congenital thrombophilia is known to cause significant maternal complications, and possibly has an adverse effect on normal fetal development. The aim of this study was to assess the prevalence of factor XII (FXII) deficiency in women with a history of recurrent miscarriage. Two hundred and forty-one consecutive Japanese women with a history of two or more recurrent miscarriages were prospectively assessed for their etiology by conventional screening methods. Seven women were found to have reduced FXII activity (19. 2-46.1%) and prolonged activated partial thromboplastin time (33. 3-51.3 s). Of these 7 women, 6 had experienced early pregnancy losses, while 1 woman had experienced repeated mid-trimester fetal losses with coincidental gestational thrombocytopenia. In 241 women with a history of recurrent miscarriage, the prevalence of FXII deficiency was 2.9%.

Abortion, Spontaneous↗
PubMed1984

[Coagulation factor XII deficiency, a contribution to thrombophilia].

The hereditary deficiency of Hageman's factor rarely occurs. The patients are mostly detected by chance. The leading symptom is the considerably prolonged partial thromboplastin time. A haemorrhagic diathesis is not present. Since in these patients thromboemoblic diseases are possible, in an ascertained diagnosis the prevention of thrombosis should be performed.

Diagnosis, Differential↗
PubMed1999

Reevaluation of the incidence of thromboembolic complications in congenital factor XII deficiency--a study on 73 subjects from 14 Swiss families.

To further elucidate the debated role of hereditary FXII deficiency as a thrombophilic risk factor this follow-up study on 65 subjects out of 12 Swiss families was undertaken (follow-up: 6 yrs). Fifteen severely FXII deficient subjects (FXII:C < 1%), 35 partially FXII deficient subjects (FXII:C > or = 1-59%), 10 with normal FXII values (FXII:C > or = 70%), and 5 non-classifiable subjects (FXII:C > or = 60-69%) were reevaluated. Eight subjects (4 severely and 3 partially FXII deficient, 1 non-classifiable) were newly enrolled. Four instances of deep vein thrombosis, one superficial vein thrombosis and one myocardial infarction were noted in 2 out of 19 severely FXII deficient subjects during a total life-time period of 866.6 patient-years. In 38 partially FXII deficient subjects (1862.8 patient-years) one ischemic cerebrovascular stroke and one superficial vein thrombosis were recorded in 2 individuals. The 10 subjects with normal FXII values (498.2 patient-years) remained thrombosis-free. One superficial vein thrombosis occurred in an unclassifiable woman. None of the 3 different FXII gene defects revealed in our patients was specifically associated with thromboembolic complications. Kaplan-Meier analysis of thrombosis-free survival suggests that hereditary partial (and probably severe) FXII deficiency does not constitute a thrombophilic condition.

Adolescent↗