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Results for “Factor XI Deficiency”

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PubMed2004

Delayed hemorrhage after cervical conization unmasking severe factor XI deficiency.

BACKGROUND: Factor XI deficiency, a rare bleeding disorder found most commonly in patients of Ashkenazi Jewish background, may be present in patients with a history of abnormal bleeding after elective surgery. CASE: A patient of Ashkenazi Jewish descent presented 12 days after cervical conization for adenocarcinoma in situ with severe vaginal bleeding requiring multiple transfusions and uterine artery embolization. After a thorough workup, a severe factor XI deficiency was found. The patient ultimately required modified radical hysterectomy for treatment of early cervical cancer. With appropriate perioperative management, the patient underwent abdominal surgery without further bleeding complications. CONCLUSION: Factor XI deficiency can present with severe bleeding episodes after elective surgery. Adequate preoperative assessment and perioperative management are necessary to prevent bleeding complications in these patients.

Adenocarcinoma↗
PubMed1999

Bleeding problems in factor XI deficient women.

Factor XI deficiency affects both sexes. Some bleeding problems are specific to women, and have been overlooked in the past. Women with factor XI deficiency are prone to menorrhagia and to bleeding complications after childbirth. These may occur in women with partial deficiency, as well as in those with severe deficiency. Instrumental delivery and gynaecological surgery need careful planning in such women with close collaboration between the obstetrician and haematologist.

Adult↗
PubMed1996

Factor XI deficiency.

That factor XI has a role in normal blood coagulation is evidenced by the fact that patients with deficiency are prone to excessive bleeding after haemostatic challenge. The role of factor XI in physiological processes has become clearer since the discovery that it is activated by thrombin; this fact has contributed to a revised model of blood coagulation. Factor XI deficiency is particularly common in Ashkenazi Jews. Bleeding is typically provoked by surgery in areas of increased fibrinolysis, and is not restricted to individuals with severe deficiency. The bleeding tendency is variable and the reasons for this are not fully understood, although in severe deficiency there is some correlation between phenotype and genotype. The factor XI gene is 23 kb long, and two mutations are responsible for most factor XI deficiency in the Ashkenazi population. A total of 13 mutations have thus far been published. Factor XI deficient patients may need specific therapy to cover surgery and dental extractions. Although a factor XI concentrate is available there have been recent reports of coagulation activation and thrombosis indicating that it should be used cautiously. Fresh frozen plasma may be an acceptable alternative in some situations.

Amino Acid Sequence↗
PubMed1996

Clinical usefulness of desmopressin for prevention of surgical bleeding in patients with symptomatic heterozygous factor XI deficiency.

Heterozygous factor XI (FXI) deficiency is sometimes associated with a significant bleeding tendency. Fresh frozen plasma of FXI concentrates are the mainstay of treatment in patients with a clear bleeding history, especially prior to surgery. However, these treatments are not completely free of risk. Furthermore, thrombosis has been reported in patients with FXI deficiency infused with FXI concentrate. No data are available on the possible efficacy of desmopressin in these patients. Two patients with a clear bleeding history associated with FXI deficiency and no additional haemostatic defects agreed to be treated with desmopressin before carpal tunnel surgery and dental extraction. The reduced basal FXI activity and antigen levels slightly increased after infusion, reaching borderline values. No bleeding was observed after surgical procedures. Desmopressin treatment seems a reasonable and useful choice in symptomatic, heterozygous FXI-deficient patients, thus reducing the cost of treatment, the risk of transmission of blood-borne viruses, and of thrombosis.

Blood Loss, Surgical↗
PubMed1989

Procainamide-induced circulating anticoagulants in a congenitally-deficient factor XI patient.

A 70 year old male patient admitted for coronary bypass surgery presented with a procainamide-induced lupus syndrome. This syndrome included a LLAC with a positive IgM ACA titer as well as a factor XII inhibitor. These drug-induced inhibitors were superimposed upon the patient's congenital deficiency of factor XI. The methods used to identify these abnormalities are described together with the replacement therapy employed to cover the surgical procedure. The long-term withdrawal of procainamide was associated with correction of all coagulation abnormalities except the factor XI deficiency.

Aged↗
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↗
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↗
PubMedDate not supplied

Congenital factor XI deficiency in a domestic shorthair cat.

A 6-month-old, female, domestic shorthair cat was examined after onychectomy and ovariohysterectomy because of bleeding from the paws. Prolonged activated partial thromboplastin time was discovered, Coagulation factor analyses revealed deficiency of factor XI coagulant activity. Plasma mixing studies indicated factor deficiency or dysfunction rather than factor inhibition. Feline factor XI deficiency in one adult cat has been previously reported but was attributed to factor XI inhibitors. The signalment, lack of primary disease, and the finding of persistent factor XI deficiency in the absence of coagulation inhibitors were considered compatible with congenital factor XI deficiency in the cat of this report.

Animals↗
PubMed1984

Factor XI deficiency in an Arab Moslem family in Israel.

An arab moslem family with members affected by PTA deficiency is described. 3 children were found to have major deficiency, factor XI procoagulant activity being 3, 3 and 4 units/dl. 8 members, including parents, paternal grandparents and 4 siblings, were found to have minor deficiency of factor XI (40 to 68 units/dl). Assays of immunoreactive material in 4 members corresponded to the level of procoagulant activity. In this family, gene expression is autosomal recessive. The only bleeding episode reported was haematuria in the propositus. No other spontaneous, post-trauma or post-operative bleeding was noted. The PTA deficiency was reported until now, mainly in ashkenazi jews. This family is the first case of PTA deficiency ever reported in arab moslems.

Adult↗
PubMed1997

Bleeding predictors in factor-XI-deficient patients.

Bleeding in factor-XI-deficient patients is mainly injury-related. Parameters influencing bleeding particularly in patients with minor factor XI deficiency have not been defined. We utilized a logistic regression model to analyze parameters influencing bleeding tendency in subjects from 45 families with factor XI deficiency. Bleeding manifestations were documented in 58% of 26 homozygous or doubly heterozygous factor-XI-deficient patients, in 20% of 46 heterozygous factor-XI-deficient patients and in 9% of 47 family members with a normal factor XI genotype. Odds ratios for bleeding in homozygotes or double heterozygotes were 13 and in heterozygotes 2.6 with 95% confidence intervals of 3.8-45 and 0.8-9.0, respectively. Bleeding correlated negatively with factor XI level (r = -0.36, P = 0.0001) with major factor XI deficiency being a strong predictor of bleeding (P = 0.011). Minor factor XI deficiency and blood group O slightly contributed to bleeding. Although factor VIII and factor XI levels were correlated (r = 0.48, P = 0.0001), levels of factor VIII and von Willebrand factor were not predictors of bleeding. Bleeding was more common following operative procedure involving mucosal membranes (P < 0.01). The designed model enabled prediction of bleeding manifestations with an overall accuracy of 78% and 82% in heterozygotes.

Case-Control Studies↗
PubMed1981

Pseudo-factor-XI deficiency: effect of an inhibitor of factor XI adsorption to surface.

Recently we have described a normal plasma activity that modulates contact activation by inhibiting adsorption of factor XI to activating surfaces. Here we report the first identified case in which a patient has abnormal clotting tests due to an excess of a similar activity. The patient's plasma had a prolonged partial thromboplastin time and low apparent factor XI assay. His plasma prolonged the partial thromboplastin time of normal plasma and partially neutralized normal factor XI activity in vivo and in vitro. Analysis in dilute plasma revealed normal amounts of factor XI activity and antigen. Factor XI adsorption from plasma to activating surfaces was tested by adding a small amount of 125I-labeled purified factor XI to plasma, exposing the mixture to a glass tube or kaolin, and determining the amount of factor XI adsorbed to the surface. Whereas normal plasma and plasmas deficient in factor XII, factor XI, or Fletcher factor yielded about 4% adsorption to glass, factor XI adsorption from patient's plasma was less than 1%, indicating the presence of an adsorption inhibitor. This inhibitor did not affect factor XI activation or the activity of preformed factor XIa. It was not adsorbed by AI(OH)3 and was present in serum and the macroglobulin peak on gel filtration of the plasma through Sephadex G-200. The patient's history does not allow a definitive conclusion as to whether this inhibitor was associated with abnormal bleeding.

Adolescent↗
PubMedDate not supplied

Molecular genetics aspects of factor XI deficiency and Glanzmann thrombasthenia.

Factor XI deficiency and Glanzmann thrombasthenia are among the hereditary disorders frequently encountered in Israel. Factor XI deficiency is particularly frequent in Ashkenazi (European) Jews with 1:190 individuals affected by the severe deficiency and 8.1% of the population being heterozygotes. So far 4 mutations causing factor XI deficiency have been identified of which the type II (a non-sense mutation) and type III (a missense mutation) are predominant and type I and IV observed only in 5 families. Recently, the type II mutation was observed in Iraqui-Jews as well with 3.7% of 400 unrelated subjects being heterozygotes and with the type III mutation completely absent. Since Iraqui-Jews represent the original gene pool of Jews who lived in Babylon 2500 years ago we hypothesize that the type II mutation is ancient and that the type III mutation occurred more recently, after the divergence of the original Babylonian Jews into Ashkenazi, Sephardic (Spanish) and Middle Eastern Jews. Preliminary data on factor XI intragenic polymorphic markers indeed indicate that type II and type III mutations reside on chromosomes each characterized by a different specific haplotype. Fifty living patients with type I Glanzmann thrombasthenia (28 families) have been observed in Israel. Most of them are Iraqui-Jewish and the rest are Arabs (5 families) and one Iranian Jewish. All Iraqui-Jewish patients have an IIbp deletion within exon 12 of the glycoprotein (GP) IIIa resulting in a shift of the reading frame that leads to premature termination of the GPIIIa synthesis.(ABSTRACT TRUNCATED AT 250 WORDS)

Factor XI Deficiency↗
PubMed2006

Percutaneous coronary intervention in a patient with congenital factor XI deficiency and acquired inhibitor.

BACKGROUND: Factor XI deficiency has been associated with bleeding diathesis mostly secondary to trauma and post-operatively depending on the severity of deficiency. Cases with factor XI deficiency having undergone cardiac surgery and coronary intervention after appropriate replacement therapy have been reported in the past. The presence of inhibitor in factor XI deficiency poses a hematological challenge and literature regarding coronary intervention in such patients is limited. Immunosuppressive therapy, plasma exchange and factor VII product transfusions have been used prior to cardiac interventions in few such reported cases. METHOD: We report our approach in such a case of Percutaneous Transluminal Coronary Angioplasty in a 72-year-old male of Jewish origin who has congenital factor XI deficiency complicated with acquired inhibitor. RESULTS: In some cases, the acuity of the coronary syndrome may mandate immediate coronary intervention. However, patient's history of factor XI deficiency and acquired inhibitor pose a major dilemma of further course of action. We performed percutaneous balloon angioplasty in this case with no anti-coagulant and with favorable outcome. CONCLUSION: Under these circumstances of significant coagulation disorder and based on the case report, we recommend that balloon angioplasty be undertaken with no additional anti-coagulation other than Aspirin.

Aged↗
PubMed1997

Recurrent venous thromboembolic disease and factor XI concentrate in a patient with severe factor XI deficiency, chronic myelomonocytic leukaemia, factor V Leiden and heterozygous plasminogen deficiency.

There are increasing concerns about the potential thrombogenic risks associated with the use of factor XI concentrates. We describe the case of a 49 year-old man with chronic myelomonocytic leukaemia and severe factor XI deficiency (< 1 u/dl), in whom the use of factor XI concentrate appeared to be associated with the development of venous thromboembolic disease. Subsequent investigations revealed the presence of both the factor V Leiden abnormality and heterozygous plasminogen deficiency. This case highlights the risks associated with the use of factor XI concentrates and suggests that these risks may be further increased in patients with an inherited or acquired prothrombotic abnormality or an underlying malignancy. Prothrombotic screening of patients with severe factor XI deficiency may be indicated particularly in younger patients in whom treatment with factor XI concentrates is a possibility.

Factor V↗
PubMed1996

Activation of factor VII during alimentary lipemia occurs in healthy adults and patients with congenital factor XII or factor XI deficiency, but not in patients with factor IX deficiency.

Factor VII activity (FVIIc), a risk marker for coronary heart disease, is increased during postprandial lipemia. Factor VII activation accompanies lipolysis of triglyceride-rich lipoproteins, but the nature of this association and whether it is causal remain uncertain. To explore this issue, four patients with homozygous factor XII deficiency, four with complete factor XI deficiency, six with factor IX deficiency, and their respective age- and sex-matched controls were given two isocaloric dietary regimens, one providing on average 136 g fat and the other 19 g fat. Blood was taken before breakfast, immediately before lunch at 195 minutes, and at completion of the study at 390 minutes. All samples for each subject and matched control were assayed as one batch for FVIIc, activated factor VII, and factor VII antigen (FVIIag). Activation of factor VII was observed with the high-fat regimen but not with the low-fat regimen in all controls, factor XII-deficient patients, and factor XI-deficient patients. No factor VII activation was observed during either regimen in factor IX-deficient patients, but a normal postprandial responsiveness of factor VII to dietary fat was restored in one patient who replicated the study after factor IX therapy. Plasma FVIIag was not altered postprandially in either regimen in any group of patients or controls. Factor IX apparently plays an obligatory role in the postprandial activation of factor VII, although the mechanism remains to be determined.

Adult↗
PubMed2000

Factor XI deficiency and its management.

Factor XI deficiency has a more variable bleeding tendency than haemophilia A or B. Individuals with severe deficiency have only a mild bleeding tendency, which is typically provoked by surgery, but the risk of bleeding is not restricted to individuals with severe deficiency. The bleeding tendency varies between individuals with similar factor XI levels, and sometimes the bleeding tendency of an individual may vary. The reasons for this are not fully understood, although in cases of severe deficiency there is some correlation between phenotype and genotype. Factor XI is activated by thrombin. The role of factor XI in physiological processes has become clearer since this fact was discovered, and the discovery has contributed to a revised model of blood coagulation. Factor XI deficiency occurs in all racial groups, but is particularly common in Ashkenazi Jews. The factor XI gene is 23 kilobases long. Two mutations are responsible for most factor XI deficiency in the Ashkenazi population, but a number of other mutations have now been reported in other racial groups. Individuals with factor XI deficiency may need specific therapy for surgery, accidents, and dental extractions. Several therapies are available which include fresh frozen plasma, factor XI concentrates, fibrin glue, antifibrinolytic drugs, and desmopressin. Each has advantages and risks to be considered. Factor XI concentrate may be indicated for procedures with a significant risk of bleeding especially in younger patients with severe deficiency, but its use in older patients has been associated with thrombotic phenomena. If fresh frozen plasma is to be used it is preferable to obtain one of the virally inactivated products. Fibrin glue is a useful treatment which deserves further study.

Blood Coagulation↗