Cases reported "Factor XI Deficiency"

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11/81. The use of recombinant factor viia (NovoSeven) in a patient with a factor xi deficiency and a circulating anticoagulant.

    A 75-year-old female known to have a chronic myelomonocytic leukaemia and an acquired FXI deficiency (FXI level, 5%) related to a FXI inhibitor (38 Bethesda units) was admitted to the hospital for acute pneumonia associated with a bulky pleural effusion. A therapeutic puncture was found to be essential for the patient. But, such a procedure is a haemostatic challenge which requires adequate preparation. A first treatment composed of intravenous immunoglobulins and immunosuppressive therapy failed to eradicate the inhibitor and to restore a normal FXI level. In this context, steroids or FXI concentrates were not recommended. Thus, small doses of recombinant activated factor VII were used to achieve haemostasis. The procedure was successful, the tolerance was good and no adverse events occurred.
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12/81. Successful use of recombinant factor viia in a patient with inhibitor secondary to severe factor xi deficiency.

    Factor XI (FXI) inhibitors are a rare complication of inherited FXI deficiency. We report the successful use of recombinant factor viia (FVIIa) in a patient with a high-responding inhibitor undergoing cataract extraction. At the time of surgery there were limited available data on the optimal management of patients with FXI deficiency. A 62-year-old Ashkenazi Jewish woman had a lifelong history of excessive bleeding secondary to severe FXI deficiency (2 U dL-1), and received FXI concentrate (FXI:C) when she underwent a colposuspension procedure. She was subsequently diagnosed with a FXI inhibitor of 16 Bethesda units (BU) when she developed a poor response to FXI:C at the time of total hip replacement. Two months later she was admitted for cataract extraction. The FXI level was < 1 U dL-1 with an inhibitor titre of 48 BU. She received 90 microg kg-1 of FVIIa immediately preoperatively followed by continuous infusion at a rate of 20 microg kg-1 h-1 for 24 h. The cataract extraction was successful and there was no excess bleeding during surgery or in the postoperative period. mutation analysis of the FXI gene showed that the patient was homozygous for the type II genotype [exon 5, Glu117-->Ter]. The reason for the low prevalence of inhibitor formation in patients with FXI deficiency is unclear but may reflect a number of factors including reporting bias, the rarity of absent circulating FXI:C activity, and the infrequent use of FXI replacement therapy.
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13/81. 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.
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14/81. Compound heterozygosity for two novel mutations in a severe factor xi deficiency.

    We identified two novel mutations in an asymptomatic 25-year-old Japanese patient with severe factor xi deficiency. Direct sequencing analysis of PCR products from his factor XI gene revealed a G to T transversion in exon 12, resulting in the nonsense mutation (Glu447Stop) and a G insertion in five consecutive guanine nucleotides ((501)Trp(TGG)-(502)Gly(GGG)) in exon 13 that is expected to lead to the substitution of the last 105 amino acids ((503)Tyr-(607)Val) with 32 abnormal amino acid residues ((503)Val-(534)Thr) followed by stop codon. We also demonstrated that two mutations are associated with the separate alleles in this patient, indicating compound heterozygosity for these mutations. Both mutations lead to the disruption of the catalytic domain structure of the FXI molecule and thus are responsible for his deficiency of factor XI.
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15/81. 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.
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16/81. Two factor XI mutations in a Chinese family with factor xi deficiency.

    We describe a Chinese family with factor xi deficiency, the first reported to date. The proband had factor XI activity of 1% and was heterozygous for two nonsense mutations, an exon-8 C713-->T mutation resulting in Gln263-->Term, and an exon-10 C979-->A mutation resulting in Tyr351-->Term. Two daughters were heterozygous for the Gln263-->Term mutation and two for the Try351-->Term mutation. All showed a reduction of factor XI activity to about 50%. The Gln263-->Term mutation has been described in two Japanese families, and it remains to be determined whether a common founder exists between the three kindreds. The Try351-->Term mutation is novel.
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17/81. Dominant factor xi deficiency caused by mutations in the factor XI catalytic domain.

    The bleeding diathesis associated with hereditary factor XI (fXI) deficiency is prevalent in Ashkenazi jews, in whom the disorder appears to be an autosomal recessive condition. The homodimeric structure of fXI implies that the product of a single mutant allele could confer disease in a dominant manner through formation of heterodimers with wild-type polypeptide. We studied 2 unrelated patients with fXI levels less than 20% of normal and family histories indicating dominant disease transmission. Both are heterozygous for single amino acid substitutions in the fXI catalytic domain (Gly400Val and Trp569Ser). Neither mutant is secreted by transfected fibroblasts. In cotransfection experiments with a wild-type fXI construct, constructs with mutations common in Ashkenazi jews (Glu117Stop and Phe283Leu) and a variant with a severe defect in dimer formation (fXI-Gly350Glu) have little effect on wild-type fXI secretion. In contrast, cotransfection with fXI-Gly400Val or fXI-Trp569Ser reduces wild-type secretion about 50%, consistent with a dominant negative effect. immunoprecipitation of cell lysates confirmed that fXI-Gly400Val forms intracellular dimers. The data support a model in which nonsecretable mutant fXI polypeptides trap wild-type polypeptides within cells through heterodimer formation, resulting in lower plasma fXI levels than in heterozygotes for mutations that cause autosomal recessive fXI deficiency.
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18/81. Severe factor xi deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain.

    In this study, a Lebanese woman with severe factor xi deficiency as well as several unaffected family members were analysed. The F11 gene was screened by polymerase chain reaction amplification of all 15 exons, including intron-exon junctions followed by single-strand conformational analysis. Variant single-strand conformational analysis profiles were obtained for exon 13; sequencing of these products allowed the identification of a novel missense mutation (Trp501Cys) situated in the catalytic domain, in homozygosity in the proband.
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19/81. 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.
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20/81. Malignant fibrous histiocytoma of the heart complicated by factor xi deficiency in a Jehovah's Witness patient.

    We describe a 16-year-old girl with malignant fibrous histiocytoma (MFH) of the heart complicated by factor xi deficiency. The preoperative diagnosis was left atrial myxoma. We decided to perform the operation owing to a normal bleeding time. Operative findings suggested a malignant tumor. The patient was a Jehovah's Witness, and extensive excision was not performed because blood transfusion was not allowed. We resected as much of the tumor and left atrial appendage as possible. The pathologic diagnosis was MFH. Excessive bleeding was not observed during the operation. bleeding time helps to determine whether a surgical procedure is indicated in patients with factor xi deficiency.
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