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Results for “Factor VII Deficiency”

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PubMed1990

[Gastrectomy for a patient with congenital factor VII deficiency--a case report].

A 76-year-old man with congenital factor VII deficiency was admitted to our hospital for the treatment of gastric cancer. On admission, the hepaplastin test was prolonged reaching to 21% and factor VII activity was reduced to 8%. After preoperative heat-treated prothrombin complex concentrates loading test, factor VII levels had been maintained above 20% by every four-hour infusion of concentrates during operation and the first post operative day. Bleeding tendency didn't occur, but thrombosis occurred at the left femoral vein. Pre and postoperative replacement therapy is essential to the patient with congenital factor VII deficiency for the safety of operation.

Aged↗
PubMed2000

Severe factor VII deficiency caused by a novel mutation His348 to Gln in the catalytic domain.

Factor VII is a vitamin K-dependent zymogen that plays a key role in the initiation of the extrinsic pathway. A severe factor VII deficiency was identified in a 45-year old male whose plasma factor VII antigen was less than 60 ng/ml and expressed 5.2% of normal factor VII activity. DNA sequence analysis of the patient's factor VII gene showed a thymidine to guanine transversion at nucleotide 10968 in exon VIII that results in a novel amino acid substitution of His348 to Gln. The patient was homozygous for this mutation, whereas some of his family members were heterozygous. Both wild type and mutant factor VII were transiently expressed in COS-1 cells. The level of secreted mutant factor VII antigen was only 11.0% of the level of wild type factor VII. In CHO cells stably transfected with the mutant factor VII, only 37.3% of the total labeled FVII was secreted into the conditioned media and the remainder was retained inside the cells. These data suggest this mutation leads to factor VII deficiency due to the impaired secretion of the molecule.

Amino Acid Sequence↗
PubMed2006

Disorders of menstruation and their effect on the quality of life in women with congenital factor VII deficiency.

AIMS AND OBJECTIVES: To review menstrual problems in women with congenital FVII deficiency and to study their effect on the quality of life during menstruation in women with congenital FVII deficiency. METHOD: 14 women with congenital factor VII deficiency registered with the Haemophilia Centre at the Royal Free Hospital were interviewed and their case notes reviewed. All women completed Pictorial Blood assessment Chart (PBAC) for assessment of menstrual blood loss and a quality of life questionnaire during menstruation. Similar questionnaire and PBAC was completed by an age matched healthy control group of 23 women. RESULTS: Median age of study group was 35 yrs and of control group 34 yrs. Median FVII level of the study group was 31.5 IU/dL Two women had severe FVII deficiency (FVII level < 10 IU/dL) and 12 women had mild-moderate FVII deficiency. 57% women (8/14) from study group had menorrhagia (PBAC score > 100) compared with 17% (4/23) women from the control group. Six women (43%) from the study group were diagnosed with anaemia due to heavy periods, compared to two (9%) in the control group. The quality of life scores during menstruation were significantly worse in the women with FVII deficiency, compared to controls. CONCLUSION: Women with factor VII deficiency exhibit a spectrum of bleeding symptoms, menorrhagia being one of the commonest symptoms. This has adverse effect on their quality of life.

Activities of Daily Living↗
PubMed1984

Carriers of factor VII deficiency are not always asymptomatic.

Seven children, referred because of bleeding symptoms, proved to be heterozygotes for factor VII deficiency. Abnormal bruising was the commonest symptom (6/7), followed by postoperative bleeding (4/7). One case had recurrent epistaxis. Results on the patients and their families are presented. Prothrombin times were prolonged by 2-3 s and factor VII assays ranged from 25 to 55% (mean 38%). The cases are reported because they bled excessively: yet it is usually stated that carriers for factor VII deficiency are symptom-free. One case of homozygous factor VII deficiency is also described: the parents (who are heterozygotes) were symptom-free.

Bleeding Time↗
PubMed2003

Menorrhagia caused by severe hereditary factor VII deficiency. Case 1.

This report describes the clinical history and laboratory findings of three sisters with severe inherited factor VII deficiency. We present current knowledge about factor VII structure and function, and discuss clinical presentation as well as management options for patients affected by factor VII deficiency.

Adult↗
PubMed1995

Heterozygous factor VII deficiency and severe hemophilia A in the same kindred.

The association between heterozygous factor VII deficiency and severe hemophilia A in the same family is described. The 18-year-old proposita had a negative personal history for bleeding events and underwent clotting evaluation after a fortuitous finding of a prolonged PT. Decreased levels of both factor VII activity and antigen to about 50% of normal, compatible with heterozygous deficiency, were found in her and in three other asymptomatic siblings. Two uncles on the paternal side had severe hemophilia A and also showed low factor VII levels. However, in these two patients factor VII deficiency was secondary to chronic liver disease due to hepatitis B and C virus infections. Combined clotting defects in the same kindred may be due to an independent segregation of two separate defects or to common gene(s) malfunction. Factor VII deficiency is frequent and probably underestimated in the general population. For these reasons factor VII deficiency can easily segregate with other clotting defects.

Adolescent↗
PubMed1993

Congenital factor VII deficiency complicated with hemoperitoneum and intracranial hemorrhage: report of a case.

Hypoproconvertinemia, or factor VII deficiency, is a rare congenital coagulopathy. We report on a female infant with congenital factor VII deficiency complicated by hemoperitoneum and intracranial hemorrhage. Most reports indicate that the bleeding of victims tends to be mild and confined to the superficial mucosa area. However, other reports and our experience with this patient suggest that it can result in fatal cerebral hemorrhage and necessitate early diagnosis, effective treatment and careful genetic counseling.

Cerebral Hemorrhage↗
PubMed2002

Outcome of intracranial hemorrhage in infants with congenital factor VII deficiency.

The outcome of 8 episodes of intracranial hemorrhage in 7 patients (4 males, 3 females) with congenital factor VII deficiency was evaluated. Their levels of factor VII clotting activity (FVII:C) were less than 1 per cent (n = 3) and ranged from 1.7 to 2.3 per cent (n = 4). The onset varied from the first week (n = 2), first month (n = 3), and at the ages of 6, 11 and 12 months (n = 3). The replacement therapy of 10 ml/kg of fresh frozen plasma (FFP) every 6-12 hours for 5-7 days was given to 6 patients. Only one craniotomy for the removal of hematoma was performed. The seventh patient experienced two episodes of bleeding. First, she received 20 microg/kg of recombinant factor VIIa (rFVIIa) every 6 hours for 4 days (1,200 microg) followed by FFP in one episode. Second, a craniotomy for the removal of a 7 cm diameter hematoma was performed by giving 20 microg/kg of rFVIIa every 6 hours for 12 days (9,600 microg) followed by FFP in another episode. As a result of these treatments, 2 died and 5 survived with sequelae, except for one who received rFVIIa. The sequelae included seizure disorder (n = 1) and hydrocephalus (n = 3). Subsequently, the surviving patients received 15 ml/kg of lyophilized fresh plasma every 3-5 days as prophylactic treatment. In conclusion, rFVIIa in the dose of 20 microg/kg every 6 hours has been shown to be effective in controlling intracranial hemorrhage in patients with congenital factor VII deficiency.

Factor VII Deficiency↗
PubMed1990

[Anesthesia and factor VII deficiency].

A case is reported of a 17 year-old patient undergoing emergency internal fixation of a mandibular fracture after a road traffic accident. Routine preoperative blood analysis revealed an isolated deficiency in factor VII (33%), with a normal activated partial thromboplastin time and a reduced prothrombin level (50%). Because there was no previous history of an haemorrhagic diathesis, the surgical procedure was carried out without any factor VII replacement. The course of surgery was normal, with no abnormal blood loss. The possible causes of this deficiency, and its treatment are discussed.

Adolescent↗
PubMed2002

Perioperative pharmacokinetics of factor VII concentrate during liver surgery in a patient with congenital factor VII deficiency: an individual mathematical model.

A patient with congenital factor VII deficiency (baseline activity, 7%) underwent surgery for hepatocellular carcinoma. No literature reference was found concerning the management of this coagulation defect in patients requiring liver surgery. We report one such case, with special reference to the peri-operative management of factor VII replacement therapy and the pharmacokinetic behavior of factor VII. As a result of accidental suprahepatic vein lesion, a bleeding episode occurred. This was associated with an increase in factor VII clearance and volume of distribution values from 1.30 to 3.85 l/h, and from 6.51 to 13.2 l, respectively. After surgery, the patient continued to receive the concentrate every 8 h during the first nine post-operative days. No post-operative bleeding or thrombotic event was observed. The patient was discharged in good condition.

Aged↗
PubMed2004

Acquired isolated factor VII deficiency associated with severe bleeding and successful treatment with recombinant FVIIa (NovoSeven).

Acquired isolated FVII deficiency not due to vitamin K deficiency or liver disease is rare and often associated with severe bleeding. We present a case of transient acquired factor VII deficiency associated with major bleeding, successfully treated with twice daily intermittent intravenous recombinant activated factor VII (rFVIIa) (NovoSeven; Novo Nordisk). The severe transient reduction in factor VII coagulant activity (FVII:C) levels, unresponsive to fresh frozen plasma and vitamin K administration, raise the possibility of an acquired inhibitor to factor VII. However, no inhibitor to factor VII could be demonstrated using protein G sepharose adsorption, or a Bethesda assay using IgG purified from patient plasma. There are few reports of the use of rFVIIa in this setting and this case suggests that rFVIIa is effective therapy, and should be considered early when acquired factor VII deficiency is associated with severe bleeding.

Factor VII↗
PubMed1993

Cardiac surgery with extracorporeal circulation in severe factor VII deficiency.

We describe here successful open heart surgery with extracorporeal circulation and haemodilution in a child with severe congenital factor VII deficiency. Substitution therapy was realized with factor VII concentrate (SD proconvertin concentrate, Bio-Transfusion). This is the first report case of successful cardiac surgery in severe congenital factor VII deficiency.

Child, Preschool↗
PubMed1990

Factor IX is activated in vivo by the tissue factor mechanism.

Despite significant progress in elucidating the biochemistry of the hemostatic mechanism, the process of blood coagulation in vivo remains poorly understood. Factor IX is a vitamin K-dependent glycoprotein that can be activated by factor XIa or the factor VII-tissue factor complex in vitro. To investigate the role of these two pathways in factor IX activation in humans, we have developed a sensitive procedure for quantifying the peptide that is liberated with the generation of factor IXa. The antibody population used for the immunoassay was raised in rabbits and chromatographed on a factor IX-agarose immunoadsorbent to obtain antibody populations with minimal intrinsic reactivity toward factor IX. We determined that the mean level of the factor IX activation peptide (FIXP) in normal individuals under the age of 40 years was 203 pmol/L and that levels increased significantly with advancing age. The mean concentration of FIXP was markedly reduced to 22.7 pmol/L in nine patients with hereditary factor VII deficiency (factor VII coagulant activity less than 7%) but was not significantly different from normal controls in nine subjects with factor XI deficiency (factor XI coagulant activity less than 8%). These data indicate that factor IXa generation in vivo results mainly from the activity of the tissue factor mechanism rather than the contact system (factor XII, prekallikrein, high molecular-weight kininogen, factor XI). Our results may also help to explain the absence of a bleeding diathesis in many patients with deficiencies of the contact factors of coagulation.

Adult↗
PubMed1981

Factor VII deficiency.

This report describes three patients with factor (F) VII deficiency: two adult siblings and an unrelated 5 1/2-month-old child who succumbed after several central nervous system (CNS) hemorrhages. This event prompted a review of the literature concerning the incidence and characteristics of intracranial hemorrhage in congenital F VII deficiency. Of 138 patients reported to have F VII deficiency, only 75 were considered to have a true deficiency. There was a 1:1 sex distribution with a 19% incidence of consanguinity in the 63 families which these 75 patients represented. CNS hemorrhage occurred in 12 of the 75 proven factor-deficient patients -- an incidence of 16.0%. There was a 1.4:1 female predominance in this group with a 44.4% incidence of consanguinity in their nine families. Except for one patient with hypertension, there was no history of preceding trauma or previous underlying CNS abnormality, though head trauma with a difficult vaginal delivery may have occurred in five infants. Diagnostic lumbar puncture or ventricular tap revealed bloody, xanthochromic cerebrospinal fluid in five. Five patients with F VII deficiency developed a CNS hemorrhage prior to 1 week of age, and none survived. Seven patients older than 1 week of age suffered such an event, and four of these survived. It is concluded that the greatest risk factor for development of CNS hemorrhage is trauma related to the birth process.

Adult↗
PubMed1985

Multiple extractions in a patient with factor VII deficiency.

Multiple extractions were carried out in a patient with factor VII deficiency treated with prothrombin complex concentrate. Hemostasis and healing were completely satisfactory. The side effects of prothrombin complex concentrate are discussed.

Blood Coagulation Factors↗
PubMed1984

Thromboembolism in congenital factor VII deficiency.

An Israeli family of Persian origin was investigated for factor VII deficiency. The proposita, derived from a consanguineous marriage, had repeated thrombophlebitis attacks, pulmonary embolism and rectal bleeding. The family studied and the proposita had low factor VII procoagulant activity and low factor VII antigen.

Adult↗
PubMed1996

Mutation pattern in clinically asymptomatic coagulation factor VII deficiency.

A total of 122 subjects, referred after presurgery screening or checkup for prolonged prothrombin time, were characterized for the presence of coagulation factor VII deficiency. Fourteen subjects carried a partial and asymptomatic deficiency, and in half of them dysfunctional molecules were detected in plasma. In nine subjects we found five missense mutations differing from those previously found in factor VII deficient patients. The others were homozygous for a common polymorphism (R353Q) that affects factor VII levels. A new codon dimorphism (A330) was also found in exon 8. Four mutations (R223W, M298I, R304Q, and R353Q) located at FVII-specific residues point out protein regions that are important for coagulation factor evolution, and two mutations (G342E and E265K) affect generic or partially generic residues. The newly reported mutations were combined with those we previously found, totalling 17 independent mutations responsible for FVII deficiency in 27 Italian pedigrees. We observed several similarities with the mutation pattern determined in factor IX, which include a high percentage of transitions at CpG doublets, the presence of hot spot sites affected by multiple substitutions, and of several topologically equivalent mutations.

Factor VII Deficiency↗
PubMed2001

Factor VII deficiency and the FVII mutation database.

Factor VII (FVII) is a zymogen for a vitamin K-dependent serine protease essential for the initiation of blood coagulation. It is synthesized primarily in the liver and circulates in plasma at a concentration of approximately 0.5 microg/ml (10 nmol/L). The FVII gene (F7) is located on chromosome 13 (13q34), consists of 9 exons, and spans approximately 12kb. It encodes a mature protein of 406 amino acids, which has an N-terminal domain (Gla) post-translationally modified by gamma-carboxylation of glutamic acid residues, two domains with homology to epidermal growth factor (EGF1 and 2), and a C-terminal serine protease domain. The single chain zymogen is activated by proteolytic cleavage at Arg152-Ile153. There are 238 individuals described in the world literature with mutations in their F7 genes (FVII mutation database; europium.csc. mrc.ac.uk). Complete absence of FVII activity in plasma is usually incompatible with life, and individuals die shortly after birth due to severe hemorrhage. The majority of individuals with mutations in their F7 gene(s), however, are either asymptomatic or the clinical phenotype is unknown. In general, a severe bleeding phenotype is only observed in individuals homozygous for a mutation in their F7 genes with FVII activities (FVII:C) below 2% of normal, however, a considerable proportion of individuals with a mild-moderate bleeding phenotype have similar FVII:C by in vitro assay. The failure of in vitro tests to differentiate between these groups may be due to lack of sensitivity in the assays to the very low amounts of FVII:C, which are sufficient to initiate coagulation in vivo. A number of polymorphisms have been identified in the F7 gene and some have been shown to influence plasma FVII antigen levels.

Animals↗