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PubMed2003

[Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp].

OBJECTIVE: To investigate the genotypes of mutations of an inherited coagulation factor VII(F VII) deficiency pedigree. METHODS: The diagnosis was validated by coagulant parameters. F VII gene mutations were analysed in the proband and her family members by DNA direct sequencing. The PCR fragments were cleaved by the Msp I restriction enzyme to confirm the mutations detected by sequencing was performed in this study. RESULTS: Double heterozygous mutations at the same coding site of amino acid were detected in propositus of the pedigree: a C to T mutation at position 11348 resulting in Arg304Trp substitution combined with a G to A mutation at position 11349 resulting in Arg304Gln substitution. Her farther had a G to A mutation at position 11349 and her mother had a C to T mutation at position 11348, respectively. Both were heterozygous mutations. One of her brothers had normal genotype, the other brother and all her three offsprings had heterozygous mutations. CONCLUSION: Double heterozygous mutations coding the same amino acid were found in a pedigree with hereditary coagulation factor VII deficiency.

DNA Mutational Analysis↗
PubMed1982

Surgery for scoliosis in congenital factor VII deficiency.

A patient with severe congenital factor VII deficiency had an anterior and posterior spine fusion for severe scoliosis. For both operations, hemostatic management was 50 units of prothrombin complex concentrate (Konyne) per kilogram of body weight before surgery and every eight hours after surgery for the first 24 hours. Subsequently, 10 mL/kg of fresh frozen plasma was given daily for five days. No bleeding problems were encountered. A treatment protocol is outlined for replacement therapy management during surgery for patients with severe factor VII deficiency. Managing hemostatic control during surgery in patients with severe factor VII deficiency is relatively easy.

Adolescent↗
PubMed2000

Molecular characterization of four novel mutations causing factor VII deficiency.

INTRODUCTION: Hereditary deficiency of factor VII (FVII) is a rare coagulation defect. We previously studied the molecular basis of the FVII deficiency in Israeli patients and found that the majority of them bore the Ala244Val mutation. In the present study we further analysed FVII deficient patients. PATIENTS AND METHODS: Three patients with severe FVII deficiency (FVII activity < or =1%) and one with partial deficiency (25%) were studied. In all four patients, the FVII gene was amplified and sequenced. RESULTS: Four novel mutations have been identified: IVS 2+1G-->C Phe 24 deletion, Leu300Pro and Arg277His. Homozygosity for the IVS2+1G-->C mutation was lethal, whereas homozygosity for the Phe 24 deletion was accompanied by a severe bleeding tendency. FVII modeling showed that Phe 24 is located in the Gla domain. Both Arg 277 and Leu 300 are within the catalytic domain, although Arg 277 is also involved in tissue factor binding. CONCLUSION: We have analysed four mutations, two of which (IVS2+1G-->C, Phe 24 deletion) were associated with severe bleeding tendency in the homozygous state, facilitating prenatal diagnosis. Hypothetically, using FVII modeling, Arg 277 replacement by histidine may weaken the tissue factor, while deletion of Phe 24 and Leu300Pro mutation might be associated with abnormal folding of the Gla and catalytic domains, respectively.

Adolescent↗
PubMed2003

Sensitivity of different prothrombin time assays to factor VII deficiency in canine plasma.

The factor VII sensitivity of prothrombin time (PT) in dogs was tested using five different PT reagents and a commercial PT variant. The five PT reagents were used according to manufacturers' instructions (standard test, PT([ST])) and also using a modified test instruction (modified test, PT([MT])). Plasma samples with defined factor VII levels (10-100%) were prepared by adding increasing quantities of canine factor VII deficient plasma to the pooled plasma of healthy dogs. Statistical comparison based on prothrombin time ratios (PTR = PT sample: PT measured for 100% factor VII activity level) revealed significant differences between different reagents for PT([ST]) and also for PT([MT]). Factor VII activity at which PT was prolonged to the upper limit of the reference values (FVII([X(0.975)])) was 16-39% (PT([ST])) and 23-35% (PT([MT])). Factor VII sensitivity measured by PTR and also by FVII([X(0.975)]) values, was higher in four of five PT reagents using PT([MT]) when compared with PT([ST]). The results of this study indicate the importance of selecting a sensitive reagent and method for PT measurement and for careful interpretation of PT test results using canine plasma.

Animals↗
PubMed2004

Factor VII deficiency and its treatment in delivery with recombinant factor VII.

The authors present two cases of pregnant women with coagulation disorders--one with inherited deficiency of factor VII and the second with chronic hepatitis. Both cases were successfully treated with recombinant activated factor VII of coagulation (NovoSeven) in delivery. The advantages of using this product are discussed.

Adult↗
PubMed1997

Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter.

Although small deletions, splice site abnormalities, missense, and nonsense mutations have been identified in patients with factor VII deficiency, there have been no reports of mutations in the factor VII promoter. We investigated a girl with factor VII levels that were less than 1% of normal in association with a severe bleeding diathesis. The patient is homozygous for a T to G transversion that occurs 61 bp before the translation start site. This nucleotide is in a sequence that is an hepatocyte nuclear factor 4 (HNF-4) binding site within the factor VII promoter (ACTTTG AE-->ACGTTG). Using gel mobility shift assays, we show that the mutation disrupts the binding of HNF-4 to its cognate binding site. In growth hormone reporter gene assays, the activity of a plasmid containing the mutant promoter was 6.7% of the wild-type promoter plasmid. Although HNF-4 was able to transactivate the wild-type factor VII promoter 5.4-fold in HeLa cells, no transactivation could be shown with the mutant promoter. These findings indicate that HNF-4 exerts a major positive regulatory effect on factor VII expression and provides in vivo evidence that binding of this transcription factor is critical for normal factor VII expression.

Basic Helix-Loop-Helix Leucine Zipper Transcriptio↗
PubMed2006

Bleeding prophylaxis in a child with cleft palate and factor VII deficiency: a case report.

The association between factor VII deficiency and cleft palate has never been described. The case of a child with cleft palate and factor VII deficiency who successfully underwent palatoplasty is described in this article. To allow surgical treatment, through maintenance of a normal prothrombin time, the patient was given 15 microg/kg of recombinant factor VIIa every 12 hours, starting 20 minutes before surgery and ending the third postoperative day. No abnormal perioperative bleeding was observed. Use of recombinant factor VIIa in bleeding prophylaxis or treatment is widespread. Doses are much higher in these cases. The reduction of dosage allows easier administration, especially in pediatric patients, without affecting drug efficacy.

Blood Loss, Surgical↗
PubMed1979

Congenital factor VII deficiency. A report of four new cases.

Four new cases with congenital homozygous factor VII deficiency are described. Factor VII levels were reduced to less than 1%, 3%, 8% and 10%, respectively. The incidence and severity of bleeding symptoms were well correlated with the measured factor VII activity. In the severe case of factor VII deficiency (less than 1%) a home treatment program was started because of severe recurrent hemarthroses. This entailed transfusions of 20 U/kg body weight prothrombin complex or factor VII concentrate in case of acute bleeding approximately every three weeks. These transfusions have been carried out successfully without any problems. In contradiction, two brothers with hypoproconvertinemia (factor VII 8% and 10% respectively) reached an age of more than 70 years. Despite replacement therapy postoperative bleeding followed one appendectomy, whereas no postoperative bleeding followed patients requiring Achilles tendon lengthening and an above knee amputation and only slight bleeding followed a tonsillectomy. Based on our experience we suggest that in patients with factor VII deficiency of less than 10%, when undergoing surgery, should be maintained a minimal factor VII activity of 10--15% during the first three postoperative days.

Adolescent↗
PubMed1999

Recombinant factor VIIa for patients with inhibitors to factor VIII or IX or factor VII deficiency.

Inhibitors to factor VIII (FVIII) or IX (FIX) in patients with haemophilia A or B create a challenging problem for the treatment of these patients. Recombinant FVIIa (rFVIIa; NovoSeven, Novo Nordisk A/S, Bagsvaerd, Denmark) is a realistic treatment option, owing to its specific mode of action and lack of immunogenicity. This was a multicentre, open-label, compassionate-use trial in patients with severe haemophilia A (FVIII:C < 1%) or B (FIX:C < 1%) with inhibitors, acquired antibodies to FVIII or FIX, or FVII deficiency (FVII:C < 5%), for whom alternative therapies had failed or were contraindicated. Patients received rFVIIa treatment for life- or limb-threatening bleeding episodes or for coverage during essential surgery. The mean rFVIIa dose was approximately 90 microg kg-1 for haemophilia A/B and acquired inhibitor patients, and 25 microg kg-1 for FVII-deficient patients. Efficacy data for 67 treatment episodes (45 bleeding episodes, 22 surgical procedures) are presented; seven patients were treated for a concurrent serious bleeding episode and surgical procedure. At the end of treatment, rFVIIa was effective or partially effective in 85% of serious bleeding episodes. During surgery, bleeding was assessed as none or less than or equivalent to normal in 91% of surgical procedures; postoperatively, 91% of procedures were associated with no or minimal oozing. During 60 separate treatment episodes, 26 adverse events (22 nonserious, four serious) were reported in 15 patients, during 17 bleeding episodes or surgical procedures. Only 10 were considered as having a possible, probable, or unknown relationship with rFVIIa; of these, fever (n=2) and thrombophlebitis (n=3) were the most common. There was no evidence of disseminated intravascular coagulation. In conclusion, rFVIIa is an effective, well-tolerated treatment for serious bleeding episodes and bleeding associated with surgical procedures in patients with severe haemophilia A/B with inhibitors, acquired inhibitors, or FVII deficiency.

Adolescent↗
PubMed2004

The use of recombinant activated factor VII in three patients with central nervous system hemorrhages associated with factor VII deficiency.

BACKGROUND: Recombinant activated factor VII (rFVIIa) is being tested to improve hemostasis in a variety of bleeding disorders. Clinical indications and efficacy are still being evaluated for this product. CASE REPORT: Over a 17-month period, rFVIIa was used to treat central nervous system hemorrhage in three patients who were found to have isolated FVII deficiency (21%, 40%, 27%). Patient A fell 30 feet, Patient B suffered a motor vehicle accident, and Patient C had a spinal cord hematoma. None of the patients had a history of bleeding diathesis. All three patients received rFVIIa after failing initial treatment with fresh-frozen plasma. RESULTS: Patient A was treated with 11 doses (initial dose 95 microg/kg; subsequent doses 8-38 microg/kg) over 10 days; Patient B received 13 doses (45-60 microg/kg) over 13 days; and Patient C received 5 doses (12-24 microg/kg) over 4 days. The prothrombin time corrected from 16.2 +/- 1.8 (mean +/- SD) to 11.2 +/- 1.6 seconds after infusion of rFVIIa, but returned to pretreatment level in 14 +/- 4 hours. At the cessation of therapy, all patients showed neurologic improvement. No complications related to the infusion of rFVIIa occurred. CONCLUSION: The use of rFVIIa may be of value both for its general effect on hemostasis, and specifically in the setting where there is a documented reduction in FVII. Doses lower than those used in patients with FVIII inhibitors appear to be effective in the setting of central nervous system hemorrhage.

Adolescent↗
PubMed2003

Severe menorrhagia due to factor VII deficiency successfully treated by thermal balloon endometrial ablation.

Factor VII deficiency, a rare inherited bleeding disorder, is often complicated by menorrhagia leading to severe anemia. These women are treated by repeated blood product transfusions, various hormone preparations, and repeated endometrial curettage. Despite the high risks involved, women with refractory disease were usually advised to undergo hysterectomy. A 36-year-old patient was known to suffer from factor VII deficiency and common variable immune deficiency, and had a long history of worsening menorrhagia. As various medical therapies failed to improve her menorrhagia, and she often required curettage and blood transfusions, we offered her more definitive treatment with thermal balloon endometrial ablation. The procedure was uneventful, and during 24 months of follow-up the patient has had several events of spotting but no heavy periods. It is suggested that thermal balloon endometrial ablation is a suitable minimally invasive therapeutic option for menorrhagia in women with factor VII deficiency.

Adult↗
PubMed1993

Factor VII deficiency with intracranial hemorrhage: a case report.

Factor VII deficiency is an autosomal recessive hereditary disorder characterized by a normal partial thromboplastin time and a prolonged prothrombin time. Definite diagnosis of this condition requires a specific Factor VII assay. Its quite uncommon occurrence in the newborn was first described by Alexander and associates in 1951. A one-day-old male, full-term newborn was presented here with skin pallor, respiratory distress and bitemporal bulging masses noted immediately after birth. Computed tomography scan of the brain revealed a subgaleal hematoma and subarachnoid hemorrhage. Laboratory studies revealed prolonged prothrombin time and a Factor VII level less than 1%. Literature on the clinical manifestation and management of Factor VII deficiency is reviewed briefly.

Cerebral Hemorrhage↗
PubMed1999

[Inherited factor VII deficiency and pregnancy. Apropos of 1 case].

Hereditary factor VII deficiency is a rare autosomal recessive condition. Factor VII's level elevates during pregnancy in normal patients, as well in deficient individuals for some authors. Various treatments (fresh frozen plasma, prothrombin complex or factor VII concentrate) have been used to lessen the peri-partum hemorrhage in those factor VII-deficient pregnant women. We report the case of a pregnant woman presenting a factor VII deficiency (level 4%), without variation of level during her pregnancy. The single infusion of factor VII concentrate, prior to delivery, has elevated factor VII's level at 17% and has likely permitted minimal post-partum bleeding. The peripartum management of factor VII deficiency is discussed.

Adult↗
PubMed2007

Prophylactic treatment of a small child with severe factor VII deficiency using repeat dosing from a single vial of recombinant activated factor VII.

We report our experience with a small child with severe factor VII deficiency and a history of frequent and spontaneous life-threatening hemorrhage. The patient has received several years of successful prophylactic treatment with an every 3-day infusion program in which she receives recombinant activated factor VII (rVIIa) using multiple doses from a single reconstituted vial over a 72-hr period. Comparison is made to prophylactic treatment in this same patient using plasma-derived factor VII (PDVII) using a prothrombin complex concentrate (PCC).

Blood Coagulation Factors↗
PubMed1997

Congenital factor VII deficiency presenting as delayed bleeding following dental extraction. A review of the role of factor VII in coagulation.

Recent updated models of the coagulation mechanism suggest that factor VII/thromboplastin complex is the main initiator or trigger of coagulation. Factor VII activation of factor IX is likely to be an important activation pathway. Inhibition of factor VII by tissue factor pathway inhibitor may have a regulatory role in the initiation of coagulation. Defining factor VII's interactions in coagulation physiology may lead to answers for some clinical problems in both hemostasis and thrombosis. We describe a 15-year-old Chinese boy with factor VII deficiency and a factor VII level of 0.08 U/ml. His symptoms were recurrent epistaxis and moderate delayed bleeding post-dental extraction. Such specific symptoms have been reported previously in a study of 40 European patients. It is one diagnosis to consider if a patients main symptom is significant post-dental bleeding. It is possible that there is requirement for higher levels of factor VII at these anatomical sites making them the common sites for symptoms in patients with moderate deficiency. Case reports of rare clotting factor deficiencies will illustrate what may be important in vitro functions of clotting proteins. Therefore reporting should be encouraged, especially during review and reconsideration of models of the coagulation mechanism.

Adolescent↗
PubMed1995

Prophylaxis and therapy with factor VII concentrate (human) immuno, vapor heated in patients with congenital factor VII deficiency: a summary of case reports.

Hereditary factor VII deficiency is a rare autosomal recessive condition, usually associated with normal or reduced levels of a functionally defective molecule. The available means of treating this condition in North America presents serious health risks to the patient. Transfusion with fresh frozen plasma carries a risk of volume overload and a significant risk for viral transmission. Sustained prothrombin complex therapy is associated with a high risk for thrombogenic complications. This communication describes the use of Factor VII Concentrate (Human) Immuno, Vapor Heated--an intermediate purity factor VII concentrate from Immuno A.G.--for the treatment of 13 patients with factor VII deficiency. Treatment regimens described include those for long-term prophylaxis (three children), acute hemorrhages (two children, one adult), peripartum prophylaxis (one patient), and surgical coverage (two children, four adults). Prophylaxis and therapy were successful in all cases, the medication was well-tolerated, and there were no complications. In the three cases of long-term prophylaxis in children, doses of 10-50 IU/kg were given one to three times a week; one patient has undergone long-term prophylaxis for approximately 8 years, one patient for 1 year, and one patient for 1 1/2 years. Three cases in which Factor VII Concentrate was principally used for treatment of acute episodes of bleeding are described. One infant received Factor VII Concentrate on about 50 occasions for treatment of mucosal bleeding; a correction to 40-100% resulted in cessation of bleeding within 15 min in all cases. For treatment of an episode of intracranial bleeding, an 8-year-old boy received a dose of 37 IU/kg Factor VII Concentrate every 6 hr for peak factor VII levels of approximately 100% and troughs as low as 4% over the 11-day treatment period. A 37-year-old adult male with intracranial bleeding received alternating doses of 16 IU/kg and 8 IU/kg every 6 hr for 10 days with peak factor VII levels in the upper thirties (%). The peak favor VII level during surgical coverage with Factor VII Concentrate (neurosurgery, open reduction of ankle bones, dental surgery, pituitary adenoma surgery, closed liver biopsy) was approximately 100% in all cases, with trough levels ranging from 8 to 65% over treatment periods of 24 hr to 16 days using treatment intervals of 6-12 hr.

Adult↗
PubMed1981

[Clinical studies of familial hereditary factor VII deficiency (author's transl)].

The discovery of a severe factor VII deficiency with increased bleeding tendency resulted in investigations of 22 members of the family. In the propositus and in two of his siblings a severe hypoproconvertinemia was demonstrated, a partial deficiency was found in ten persons. Studies of the family confirmed that this disorder is transmitted by an autosomal gene with intermediate penetrance. The mutated gene produces a severe deficiency in the homozygote and partial deficiency in the heterozygote. The parents of the homozygote patients were consanguineous. Hemorrhagic diathesis was noted only in patients with a severe factor VII deficiency. Causes for the variability of the clinical manifestations are discussed.

Adult↗