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Results for “Factor XI Deficiency”

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PubMed1977

Prostatectomy in factor XI deficiency.

Factor XI deficiency, an uncommon inherited coagulopathy characterized by an absence of bleeding history but bleeding after an operation or trauma, has not been reported previously in urologic patients. The diagnosis is made by a specific factor assay after an abnormal partial thromboplastin time and the treatment is fresh frozen plasma. Four patients with factor XI deficiency underwent open prostatectomy and all experienced excessive postoperative bleeding and prolonged hospitalization. Treatment with fresh frozen plasma controlled bleeding in 3 patients, 1 of whom suffered congestive heart failure from the fluid load imposed. The fourth patient bled heavily despite fresh frozen plasma and required several additional procedures and 29 units of blood and packed cells.

Aged↗

PubMed1991

A molecular genetic study of factor XI deficiency.

Factor XI deficiency is a rare bleeding diathesis found predominantly in Ashkenazi Jewish kindreds. A recent study of six Jewish patients identified three distinct mutations (Types I, II, and III) in the factor XI gene that were sufficient to fully define the genotypes of the patients. We have investigated 63 patients with factor XI deficiency and find overall allele frequencies of 44% for the type II mutation, 31% for the type III mutation, and 0% for the type I mutation. Therefore, 25% of the mutant factor XI alleles in our sample remain undefined. However, the distribution of mutant alleles is significantly different between Jewish and non-Jewish populations with hitherto undefined mutations accounting for 84% of the disease alleles in non-Jewish patients. Plasma factor XI:C levels were found to differ significantly between different homozygous and compound heterozygous genotypes and the inheritance of the II/III genotype was found to carry an increased risk of the most severe bleeding tendency.

Alleles↗

PubMed1976

PTA deficiency (factor XI deficiency). Report of a case.

A case of a relatively rare coagulopathy has been presented. The mode of inheritance and the incidence of the disease have been discussed. Methods of screening, diagnosis, and treatment of PTA deficiency have been suggested. We have concluded that if a coagulation screen for patients about to undergo oral surgery in a hospital is contemplated, either a partial thromboplastin time or a thromboplastin generation time should be included.

Adult↗

PubMed1989

The molecular genetics of factor XI deficiency.

Hereditary factor XI deficiency is characterised by a functional deficiency of factor XI and the absence of factor XI-related antigen in circulation. It occurs with a high frequency in the Ashkenazi Jewish population. Cloning of abnormal factor XI genes and studies on the molecular genetics of factor XI deficiency show that the cause for factor XI deficiency is heterogeneous. So far, two independent single base substitutions, one at the conserved intron donor consensus dinucleotide of intron N (type I) and a nonsense mutation at the codon for Glu117 (type II), have been identified. These two types of mutation together account for approximately half of the genetic changes in abnormal factor XI genes. At least one or more types of genetic change has yet to be defined. In the course of these studies, rapid methods that utilize the polymerase chain reaction and subsequent restriction endonuclease analysis have been developed.

Amino Acid Sequence↗

PubMed1984

Coronary artery bypass in hereditary factor XI deficiency.

Hereditary factor XI deficiency is a disorder of coagulation that has been associated with postoperative bleeding. Because cardiopulmonary bypass itself induces transient abnormalities in hemostasis, the patient with factor XI deficiency could be at increased risk for bleeding after cardiac surgical procedures. We report the successful management of a 61-year-old man with hereditary factor XI deficiency who had coronary artery bypass. Treatment with low-dose aspirin, begun 24 hours postoperatively for graft patency, was well tolerated. Once recognized and aggressively treated, factor XI deficiency does not appear to be a contraindication to potentially life-saving procedures like coronary revascularization.

Blood Transfusion↗

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↗

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↗

PubMed1975

Pulmonary embolism with factor XI deficiency.

A patient with factor XI deficiency had pulmonary embolism, although his factor XI assay was less than 1% of normal and his postoperative course was complicated by prolonged bleeding. Programs designed to prevent postoperative venous thrombosis should be carried out in factor XI-deficient patients, since the deficient state offers no protection from a pulmonary embolus. All surgical patients who are to receive low-dose heparin therapy as a part of such a program should be screened by means of preoperative determination of the partial thromboplastin time, to identify previously unsuspected bleeding disorders.

Aged↗

PubMed1991

Factor XI deficiency acquired by liver transplantation.

Factor XI deficiency (the Rosenthal syndrome), an autosomal recessive genetic defect, was transmitted to a patient after orthotopic liver transplantation. The deficiency was manifested by an isolated prolonged activated partial thromboplastin time (aPTT) after surgery. Hematologic evaluation using specific factor analysis revealed an absolute deficiency of factor XI. Stored serum obtained from the organ recipient before transplantation showed normal factor XI levels. When the liver donor's family was questioned, it was discovered that he was of Ashkenazi Jewish descent and that he had a history of bleeding after dental procedures. Before his death from intracerebral bleeding, he was documented to have an isolated prolonged aPTT value. This case shows that potentially morbid genetic defects can be transmitted by organ transplantation. It also provides evidence confirming that the liver is the only site of factor XI production.

Factor XI Deficiency↗

PubMed1984

Acquired factor XI inhibitors in two patients with hereditary factor XI deficiency.

Two patients with hereditary factor XI deficiency developed inhibitors following plasma transfusions. Neither had severe spontaneous bleeding. The patients' plasmas neutralized both factor XI in plasma, purified factor XI, and purified factor XIa. The inhibitor in both patients' plasmas adsorbed to Protein A-Sepharose. The inhibitors eluted from Protein A-Sepharose were partially neutralized by kappa and lambda light chain antisera indicating that they were polyclonal IgG antibodies. Both inhibitors markedly decreased adsorption of factor XI to glass surfaces. The cleavage of factor XI by trypsin was unaffected by the inhibitors. The lack of severe spontaneous bleeding in both of these patients strongly suggests that an alternate coagulation mechanism bypassing factor XI must compensate for this severe defect.

Blood Coagulation Tests↗

PubMed1992

Dental surgery in patients with severe factor XI deficiency without plasma replacement.

Bleeding following dental extraction is frequently the first manifestation of severe factor XI deficiency. Safe oral surgery has previously been performed in such patients by using plasma replacement therapy with or without concomitant administration of antifibrinolytic agents. The aim of this study was to determine whether such patients can undergo safe dental extractions using only an antifibrinolytic agent. The study group consisted of 19 patients with severe factor XI deficiency (factor XI:C level less than 14 U/dl) who had previously bled following dental extractions (14 patients) or other trauma (five patients). Tranexamic acid, 1 g q.i.d., was given from 12 h before surgery, until 7 days afterwards. No excessive bleeding was observed following dental extractions. One patient had slight oozing after 3 days which ceased spontaneously. Thus, plasma replacement no longer appears necessary for patients with severe factor XI deficiency requiring dental extractions.

Adult↗

PubMed1978

Factor XI deficiency: detection and management during urological surgery.

Hereditary factor XI deficiency may remain undiagnosed until severe bleeding is observed after an operation or trauma. Two such cases were encountered and, therefore, a regular screening test for coagulation disorders among urological patients was initiated. During 2 years (1975 and 1976) 10 additional cases of factor XI deficiency were detected: 5 severe and 5 partial. All patients were Ashkenazic Jews of Eastern European origin. The 5 patients with severe factor XI deficiency underwent an operation without any complications. They were transfused with 5 to 20 ml./kg./day of fresh frozen plasma from the day before the operation until 10 to 14 days postoperatively. Of the 5 patients with partial XI deficiency 4 underwent an operation. In 1 of 3 patients who did not receive transfusions postoperative bleeding was observed. A minimal level of 0.3 U./ml. (30 per cent) factor XI was found necessary to ensure good hemostasis during and after an operation. In view of a recent finding of relatively high gene frequency of factor XI deficiency in Ashkenazic Jews it seems warranted to do a partial thromboplastin time in such patients who need an operation.

Adult↗

PubMed1990

The effect of combined factor XI deficiency with von Willebrand factor abnormalities on haemorrhagic diathesis.

To account for the lack of correlation between the level of factor XI (FXI) in deficient patients and haemorrhagic manifestations, we correlated the prevalence of combined FXI and von Willebrand's factor (vWF) deficiency in 212 FXI-deficient patients. Fifty-four patients had a combined FXI and vWF deficiency: 16 patients had severe and 38 patients had mild FXI deficiency. In a group of 28 patients with comparably mild FXI deficiency, 14 bleeders had significantly lower mean vWF, Ag, ristocetin cofactor and ristocetin induced platelet aggregation than 14 non-bleeders selected on the basis of comparable FXI levels. These findings suggest that the combination of FXI and vWF deficiency is common and may affect the bleeding tendency in mild FXI deficiency.

Adolescent↗

PubMed1991

Factor XI deficiency in Ashkenazi Jews in Israel.

BACKGROUND AND METHODS: Severe factor XI deficiency, which is relatively common among Ashkenazi Jews, is associated with injury-related bleeding of considerable severity. Three point mutations--a splice-junction abnormality (Type I), Glu117----Stop (Type II), and Phe283----Leu (Type III)--have been described in six patients with factor XI deficiency. Clinical correlations with these mutations have not been carried out. We determined the relative frequency of the mutations and their association with plasma levels of factor XI clotting activity and bleeding, analyzing the mutations with the polymerase chain reaction and restriction-enzyme digestion. RESULTS: The Type II and Type III mutations had similar frequencies among 43 Ashkenazi Jewish probands with severe factor XI deficiency; these two mutations accounted for 49 percent and 47 percent, respectively, of a total of 86 analyzed alleles. Among 40 of the probands and 12 of their relatives with severe factor XI deficiency, patients homozygous for Type III mutation had a significantly higher level of factor XI clotting activity (mean [+/- SD] percentage of normal values, 9.7 +/- 3.8 percent; n = 13) than those homozygous for Type II mutation (1.2 +/- 0.5 percent, n = 16) or compound heterozygotes with Type II/III mutation (3.3 +/- 1.6 percent, n = 23), as well as significantly fewer episodes of injury-related bleeding. Each of these three groups had a similarly increased proportion of episodes of bleeding complications after surgery at sites with enhanced local fibrinolysis, such as the urinary tract, or during tooth extraction. CONCLUSIONS: Type II and Type III mutations are the predominant causes of factor XI deficiency among Ashkenazi Jews. Genotypic analysis, assay for factor XI, and consideration of the type and location of surgery can be helpful in planning operations in patients with this disorder.

Alleles↗

PubMed1986

Management of factor XI deficiency in gynecologic and obstetric patients.

Deficiency of factor XI (plasma thromboplastin antecedent) can result in severe bleeding in women undergoing obstetric or gynecologic procedures, with the highest risk in women of Ashkenazi Jewish background. Most patients do not bleed if treated with sufficient fresh frozen plasma to maintain a factor XI level of 30% or more but occasionally patients may require higher levels. Plasma infusion should be continued for several days, even if bleeding does not seem excessive, since delayed bleeding is not uncommon. The use of hepatitis B vaccine and of plasma from a single donor, may reduce the risk of hepatitis.

Adult↗

PubMed1986

The factor of factor XI deficiency in thyroid neoplasia.

Forty-three patients with factor XI deficiency detected by prolonged partial thromboplastin times were reviewed over an 11-year period. They were predominantly Ashkenazim--18 men and 25 women--ranging in age from 20 to 92 years. Thirteen patients had a history of bleeding, and eight had a family history of factor XI deficiency. Six patients with thyroid disease with four significant tumors were found for a 9% incidence of associated neoplasia. These consisted of two adenomas and two papillary-mixed cancers in two men distinguished by an aggressive course by virtue of extensive nodal disease, local recurrence, and systemic metastases in whom factor XI was profoundly decreased. It would appear that there is an undue association of factor XI deficiency and thyroid neoplasia suggestive of a shared genetic disturbance. These cases illustrate the benefit of routine preoperative coagulopathy screening by use of prothrombin time, partial thromboplastin time, and platelet counts. Factor XI deficiency is an infrequent cause of excessive bleeding, and the operative morbidity of surgical management of affected individuals can be avoided by the use of fresh-frozen plasma before and after surgery.

Adult↗