Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Factor VII Deficiency”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

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

At least 343 records · Page 19Linked to original sources
PubMed1992

A novel congenital haemostatic defect: combined factor VII and factor XI deficiency.

Isolated deficiencies of factors VII and XI are both rare. Not surprisingly, therefore, combined factor VII and XI deficiency has not been reported previously. We report here a kindred with a combined heterozygous deficiency for both factors VII and XI. The proposita is a 28-year-old woman who had both a prolonged prothrombin time (PT) and a prolonged activated partial prothrombin time (APTT) associated with a mild bleeding tendency. Coagulation studies were performed on the six available members of this kindred. The PT and APTT were normal or mildly abnormal in five of these individuals. Factor VII coagulant activity (VII:C) varied from 0.33 to 0.77 units/ml in affected subjects. In contrast, the concentration of factor VII-related antigen for the six individuals ranged from 0.68 to 2.10 units/ml. Comparable factor VII:C levels were obtained when each subject's plasma was tested with either a rabbit or a human thromboplastin reagent. Factor XI coagulant activity was less than 0.5 units/ml in three of the six subjects and normal (approximately 1.0 units/ml) in the other three. The concentrations of thrombin-antithrombin-III and prothrombin fragment 1.2 were within normal limits for all individuals. In addition to being associated with heterozygous factor XI deficiency, the abnormal factor VII molecule in the plasma of affected individuals in this kindred appears to represent a newly described mutation. This is suggested by the pattern of reactivity with thromboplastin from different species, the normal tissue factor binding and the bleeding tendency in heterozygous individuals in this kindred.

Adult↗
PubMed1988

A detailed morphological evaluation of the evolution of the haemostatic plug in normal, factor VII and factor VIII deficient dogs.

A standardized injury of the nail cuticle of normal, factor VII and factor VIII deficient dogs was used to study the evolution of the morphological changes occurring within the forming and formed haemostatic plug at the site of vascular injury. The morphological changes occurring were documented by light and transmission electron microscopy (TEM). Randomized measurements were made of the distances between adjacent platelets as a function of platelet interdigitation or compaction and the degree of dilatation of the open canalicular system (OCS) was used as an indicator of the degree of platelet activation. Fibrin deposition was noted both in terms of its location and the point in time at which it first appeared. TEM demonstrated major differences between the factor VIII deficient and the normal and factor VII deficient groups. In the normal animals the intermembrane distance showed noticeable changes with the platelets becoming tightly interdigitated at the time bleeding stopped. During the same period the OCS became dilated. These changes, which were not seen in the factor VIII deficient animals, continued until many platelets lost their intracellular content and became balloon cells or ghosts and fibrinous transformation became prominent. Although those events did occur in the factor VII deficient state, each was delayed and resulted in significant differences between the factor VII and normal animals suggesting that the extrinsic pathway may play an important role in initiating the changes noted. The results suggested that the generation of thrombin and/or factor Xa is essential to promote the initial stabilization of the platelet plug as well as initiating its subsequent consolidation by fibrinous transformation.

Animals↗
PubMedDate not supplied

Congenital deficiency of factor VII.

A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.

Blood Coagulation Tests↗
PubMed2005

Continuous infusion of recombinant factor VIIa for surgery in patients with deficiency of factor VII.

The administration of recombinant activated factor VII (rFVIIa) by continuous infusion has provided a safe and convenient alternative to bolus injections in haemophiliacs with inhibitors, but it has only been reported in a single case with congenital factor VII (FVII) deficiency. The results of 12 consecutive surgical procedures in 7 patients with congenital FVII deficiency are reported here. rFVIIa was always given in continuous infusion,aiming at plasma FVII activity of 0.5 IU/mL. Treatment was given for 2 to 7 days with a mean total dose of 7.8 mg rFVIIa. Blood loss was as expected from the different types of procedures and the only thromboembolic complication was a superficial thrombophlebitis at the infusion site. This mode of substitution was therefore safe, effective and well tolerated.

Adolescent↗
PubMed2003

Thrombin generation measurement in factor VII-depleted plasmas compared to inherited factor VII-deficient plasmas.

Activated factor VII (FVIIa)/tissue factor enzyme complex is the initiator of the coagulation cascade in vivo. FVIIa is of particular interest because it has been found to induce haemostasis in various bleeding disorders. In order to evaluate the FVII threshold that is required to initiate the clotting cascade, we measured thrombin generation in FVII-depleted plasmas spiked with increasing amounts of normal pooled plasma and in inherited FVII-deficient plasmas. According to the literature, only trace amounts of FVII are sufficient to initiate blood coagulation in vitro. By contrast, results on inherited FVII-deficient plasmas showed a wide variety of the amounts of thrombin generated in plasmas with the same FVII coagulant activity levels. This suggests that the threshold of FVII required to initiate haemostasis in vivo depends on one or more, hitherto unknown, plasmatic or cellular factors.

Blood Coagulation Tests↗
PubMed2007

Haemoperitoneum associated with ovulation in women with bleeding disorders: the case for conservative management and the role of the contraceptive pill.

Haemoperitoneum secondary to ruptured corpus luteum is a rare complication for women on anticoagulants and with certain congenital bleeding disorders. A surgical approach is often taken, leading to oophorectomy in many cases. We describe three patients presenting with haemoperitoneum in association with factor VII deficiency, factor X deficiency and sitosterolaemia. In two of the patients, recurrent episodes occurred prior to introduction of the oral contraceptive pill. Conservative management with blood product and factor concentrate support was successful in avoiding surgery in three of the five episodes of bleeding. These cases demonstrate that preservation of ovarian function is possible with a conservative approach and recurrent episodes may be prevented by suppression of ovulation.

Adult↗
PubMed2001

Anti- and procoagulant activities in factor VII-deficient subjects.

The clinical feature in patients with congenital factor VII deficiency is in part dependent on the underlying genetic defect, but the mechanisms influencing the genotype-phenotype correlation remain to be fully elucidated. In addition, thromboembolic events have been reported. Compensatory mechanisms involving vitamin K-dependent factors have been suggested. We have measured anticoagulant activities in 25 factor VII-deficient subjects (factor VII activity < or =36%) and 23 age-matched controls and correlated these to the vitamin K-dependent procoagulant activities. Two of the patients had a history of thromboembolism. The factor VII-deficient patients were found to have a significantly lower protein C activity than the controls [0.84 U/ml (95% CI 0.78; 0.89) vs. 0.98 U/ml (95% CI 0.91; 1.05), P=.004]. In addition, the protein C activity was correlated to that of factor VII (r=.36; P=.014), factor IX (r=.45; P=.002) and factor X (r=.50; P=.0006), respectively. The level of prothrombin fragment 1+2 was correlated to the protein C (r=.40; P=.012) and to the factor VII activity (r=.42; P=.011). No differences between patients and controls were seen regarding total and free protein S, antithrombin, plasminogen activator inhibitor-1 (PAI-1) and tissue factor pathway inhibitor (TFPI). Seven of the patients were found to have the Factor V Leiden mutation, but none of them had experienced any thromboembolic event. The present data support the notion that compensatory hemostatic mechanisms might exist in that the protein C activity was found to be decreased in the factor VII-deficient subjects. Whether this could influence the clinical feature, including the risk of thromboembolic events in association with replacement therapy, remains to be evaluated.

Activated Protein C Resistance↗
PubMed1977

Platelet adhesiveness and aggregation in combined factor V and factor VIII deficiency and in combined factor VII and factor VIII deficiency.

Platelet aggregation and adhesiveness were studied in 3 patients with combined factor V and factor VIII deficiency and in 3 patients with combined factor VII and factor VIII deficiency. The first three patients belonged to three different kindreds whereas the second group belonged to the same kindred. Serotonin C14 uptake and release was also found to be normal in these patients. These studies indicate that platelet function is normal in combined defects of factor VIII. These findings were in agreement with the presence of a normal bleeding time and a normal factor VIII antigen level in all these patients.

Blood Coagulation Disorders↗
PubMed1983

Factor VII congenital deficiency. Clinical picture and classification of the variants.

In congenital factor VII deficiency the clinical picture is related to the levels of factor VII coagulant activity; when factor VII:C levels are very low the bleeding episodes can occur frequently. The most frequent bleedings are menorrhagia and metrorrhagia in females and hemarthrosis in both sexes. There are 3 immunological variants of factor VII deficiency: VII-, VIIR and VII+. Conversely, the genetic variants are 2: one characterized by no discrepancy between VII:C and VII:Ag (found in the heterozygotes of VII- and VIIR variants) and the other, in which a discrepancy between VII:C and VII:Ag is found (heterozygotes from VII+ kindreds). In factor VII deficiency, most commonly the human and ox tissue factors show the highest sensitivity to the coagulation defect, whereas the one extracted from rabbits is definitely less sensitive; the definition of functional variants is based upon a different reactivity to homologous and/or heterologous tissue thromboplastins. In no case was a PIVKA-VII-like protein found and none of the factor VII defective molecules reacted to the generation of important kallikrein activity.

Animals↗
PubMed1990

Autologous bone marrow transplantation and factor XII, factor VII, and protein C deficiencies. Report of a new association and its possible relationship to endothelial cell injury.

Four patients who underwent treatment with high-dose chemotherapy (HDC) and autologous bone marrow transplantation (ABMT) and in whom posttreatment deficiencies of Factor XII and protein C subsequently developed are reported. Factor VII or Factor X deficiencies also developed in several of these patients. Three of these patients experienced chemotherapy-related cardiac, hepatic, or pulmonary toxicity. It is believed by many that endothelial cell injury may be the underlying lesion responsible for these various organ system toxicities seen in the setting of ABMT, although direct evidence of this is lacking. It is proposed that the factor deficiencies described in this report may be an additional consequence of endothelial cell injury or dysfunction. These coagulation factor deficiencies may therefore serve as both a marker to follow these organ system toxicities with and as a useful tool to better study and understand the mechanisms underlying these events. Additionally, deficiencies of either Factor VII or Factor X developed in several patients that were of a sufficient magnitude such that factor replacement therapy would be indicated before any invasive procedures or in the event of significant hemorrhage.

Adolescent↗
PubMed1997

[Combined hereditary deficiency in factors VII and X revealed by a prolonged partial thromboplastin time].

BACKGROUND: Congenital factors VII and X deficiency is rare. Association of both deficiencies is exceptional. CASE REPORT: A 3 year-old boy, born to consanguinous Moroccan parents, had a prolonged partial thromboplastin time discovered fortuitously. This finding led to the diagnosis of combined factors VII and X deficiency. His siblings had the same deficiencies. CONCLUSION: Profound deficiencies in factors VII and X are inherited following an autosomal-recessive mode. These deficiencies may be asymptomatic, only discovered by prolonged partial thromboplastin time. They may also be revealed by intracranial bleeding and other severe hemorrhages. Treatment consists of administration of factor VII or PPSB.

Blood Coagulation Factors↗
PubMed1991

Use of factor VII-deficient beagles bred by artificial insemination to evaluate mechanisms of thrombosis associated with prothrombin complex concentrates.

Artificial insemination with frozen semen was used to breed beagles homozygous for a deficiency in clotting factor VII, with plasma concentrations of 2-3% of normal adult beagle pooled plasma. The factor VII-deficient beagles were used to determine if factor VII activity has a role in the thrombogenic activity of prothrombin complex concentrates (PCCs) containing factors II, IX and X by evaluating changes in selected indicators of thrombogenicity. No differences were seen between the responsiveness of the factor VII-deficient and normal beagles, indicating that the thrombogenic activities of PCCs are mediated via effects on the intrinsic clotting system.

Animals↗
PubMed2004

Monitoring of hemostatic status in four patients being treated with recombinant factor VIIa.

Recombinant Factor VIIa (rVIIa) is a potent hemostatic agent for the management of refractory bleeding in patients with Factor VII deficiency or Factor VIII inhibitors. While the current recommended dose is usually effective, the most appropriate dose remains a subject of debate. Since factor VII levels and shortening of the pro-thrombin time do not appear to correlate with response, an appropriate laboratory marker of clinical response has not been identified. In this article we report changes noted in thrombin generation, platelet function and clot structure in blood from patients treated with rVIIa. Thrombin generation was assessed via a thrombin generation time (TGT) assay using a Hemodyne HAS instrument. Changes in clot structure were assessed as changes in clot elastic modulus in the HAS, changes in maximum amplitude in the TEG and changes in maximum clot firmness in the ROTEG. The cases presented confirmed improvement in thrombin generation with administration of rVIIa. The cases also illustrate that: a) in the factor VII deficient patient, 25% of the 90 microg/kg dose is sufficient to totally correct the defect, b) patients with high level factor VIII inhibitors may require significantly more than the recommended dose of 90 microg/kg, c) thrombin generation may not be completely corrected despite dramatic shortening of the prothrombin time, and d) increasing rVIIa doses does not by itself ensure improved thrombin generation.

Aged↗