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Hereditary Factor VII deficiency is one of the rare congenital coagulopathies. Prolonged prothrombin time (PT) with normal partial prothrombin time (PTT) may be an indicator for Factor VII deficiency. A family with hereditary heterozygous Factor VII deficiency is presented in whom no symptoms of a bleeding disorder were clinically detectable. A discussion of the therapeutic options follows.
Congenital Factor VII deficiency is a rare disorder associated with reduced levels of Factor VII activity. Replacement therapy is necessary to control hemorrhaging or if surgery is needed. We report operative treatment of one case of chronic abdominal aortic aneurysm in a patient affected by a severe form of congenital Factor VII deficiency (endogenous FVII level <1%). The operation was carried out after the administration of Factor VII concentrate raised the Factor VII concentration to hemostatic levels. The patient continued to receive the concentrate every 6 hrs during the first three postoperative days. Dosage was assessed to obtain Factor VII levels not lower than 25%. No postoperative bleeding or thrombotic events were observed. The patient was discharged in excellent condition.
Congenital factor VII (FVII) deficiency is a consequence of a genetic polymorphism that can produce a wide spectrum of disease severity. Mildly affected patients may experience increased bleeding after surgery, trauma or mucosal bleeding, while spontaneous and life-threatening bleeding occurs in patients who are severely affected. Replacement therapy is the mainstay of treatment for patients with FVII deficiency. This has traditionally been achieved using fresh frozen plasma (FFP), prothrombin complex concentrates (PCCs), or plasma-derived FVII concentrates. However, recombinant activated FVII is now widely used for therapy in these patients. As cases of FVII deficiency tend to be encountered infrequently in most centers, no consolidated evidence-based therapeutic regimens have evolved and the side effects of the available treatments have not been comprehensively evaluated. Consequently, an online registry, the Seven Treatment Evaluation Registry (STER) has been set up. This is a prospective study that aims to evaluate the efficacy and safety of the different therapeutic options with which FVII-deficient patients may be treated. Recruitment of patients into the study is currently underway.
Factor VII deficiency is a relatively infrequent hereditary bleeding disorder. Recombinant factor VIIa has been used to treat patients with factor VII deficiency with bleeding episodes or undergoing surgery. The drug has shown a high efficacy rate and will provide factor VII-deficient patients with a therapeutic agent that is not derived from human plasma.
Inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder. Mutations and polymorphisms of the FVII gene were characterized in more than 40 unrelated patients with FVII deficiency. Among the 29 different mutations, the most frequent were Ala294 Val, Ala294Val;404delC, IVS7+7, and Val281 Phe. Four novel mutations (IVS2+1G>C, Arg247 Cys, Glu265 Lys, Asp343 His) were detected. The relationships between genotypes of mutations and polymorphisms of the FVII gene, FVII deficiency, and clinical phenotype were investigated. Homozygosity of the Phe4 Leu, IVS4+1G>A, Cys135 Arg, Ala244 Val, and Ala294 Val;404delC and the double heterozygosity of Tyr68 Cys / IVS3-1G>A, Val252 Met / IVS2+5G>T, Val281 Phe / Cys135 Arg, Ala294 Val / Val281 Phe, Ala294 Val;404delC / Val281Phe, Ala294 Val;404delC / Arg152 stop, Ala294Val;404delC / Gln(-35) stop, Ala294 Val / Val252 Met, Ala294 Val / Gly156 Asp, and Thr359 Met / Asp242 His were related to clinical symptoms. Double heterozygotes for Arg247 Cys / IVS2+1G>C, Ala206 Thr / Pro303 Arg, Leu(-20) Pro / Val252 Met as well as IVS7+7 /Ala294 Val, IVS7+7 /Ala206 Thr, and IVS7+7 / Met298 Ile were asymptomatic. The clinical symptomatology is rather poor in correlation with the FVII activity. Concerning the clinical phanotype, a correlation seems to exist between specific mutations and clinical symptoms.
A case of an uncomplicated neurosurgical procedure in a patient affected by a rare bleeding disorder is described. The interest is twofold: first because of the possible influence of underlying coagulopathy in disclosing the vascular anomaly. And second although surgery in factor VII deficiency has been reported before, with and without replacement therapy, to our knowledge, this is the first neurosurgical case in which factor VII concentrate was used. This treatment allowed safe surgery and protected the patient from complications associated with plasma and protrombin complex use.
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The functional activity of coagulation factors usually is determined using bioassays dependent on substrate plasmas deficient in the factor being measured. These are obtained most often from patients with hereditary deficiency and are frequently poorly characterized. The authors characterized seven commercially available hereditary Factor-VII-deficient substrate plasmas in terms of Factor VII activity and antigen level, and then compared them with a Factor-VII-deficient plasma prepared by immunoadsorption. All of the hereditary Factor-VII-deficient plasmas contained significant quantities of Factor VII antigen (120-217 ng/mL; normal, 250-600 ng/mL). One of the commercial substrate plasmas showed significant factor VII coagulant activity with a human thromboplastin. The sensitivity of the Factor VII assay system was dependent on both the source of Factor-VII-deficient plasma and the origin of the thromboplastins; human thromboplastin was more sensitive than rabbit thromboplastin, and immune-depleted plasma gave the most sensitive assay with each thromboplastin. These results indicate that immunoadsorbed plasma may be a superior reagent for coagulation factor assays.
Factor VII deficiency is a rare disorder (1/500,000), with manifestations similar to those experienced by patients with haemophilia. Excessive bleeding during surgical procedure is prevented by factor VII administration. We report two cases of patients presenting a factor VII deficiency who were treated for oncological surgery. In the first patient with a severe congenital factor VII deficiency (8%), a continuous infusion of factor VII prevented the development of perioperative bleeding. In the second case, with a probably acquired factor VII deficiency (33%) related to a leiomyosarcoma, bleeding was prevented by a single preoperative factor VII injection.
Hereditary deficiency of factor VII is demonstrated in a Chinese family. The proposita was a 32-year-old female with bleeding diathesis consisting of spontaneous ecchymosis, menorrhagia and recurrent haemarthrosis. The prothrombin time was prolonged and the prothrombin and proconvertin test was 10% of normal. The activated partial thromboplastin time and the Stypven-cephalin clotting time were normal. The prolonged prothrombin time could be corrected by the addition of normal serum, but not by adsorbed normal or coumadin plasma. The factor VII level was 3.6% of normal. One of her brothers had bleeding symptoms and died at age 25, suggesting that factor VII deficiency might have been present. 13 of her family members had partial deficiency of factor VII with plasma levels ranging from 24 to 50%. These results suggest an autosomal recessive inheritance with a homozygous state occurring in the proposita and possibly in her brother, and a heterozygous state occurring in 13 of her family members. Our study marks an extensive survey of factor VII deficiency in an Oriental family.
Congenital factor VII (FVII) deficiency is a rare bleeding disorder with high phenotypic variability, and optimal management has yet to be determined. Treatment has traditionally involved FVII replacement therapy using fresh frozen plasma, prothrombin complex concentrates or plasma-derived FVII concentrates. Recombinant activated FVII (rFVIIa, NovoSeven(R)), the first recombinant treatment option, has recently been approved in the European Union for use in congenital FVII deficiency, but has been available on an emergency and compassionate use basis since 1988. In FVII deficiency, rFVIIa serves as substitution therapy as it provides the physiological ligand (FVIIa) for tissue factor, its receptor exposed at the site of vascular injury. This paper provides an overview of published and unpublished experience with rFVIIa in patients with congenital FVII deficiency from the NovoSeven compassionate and emergency use programmes (1988-99) and of independent reports in the literature. Recombinant FVIIa has been reported to provide effective haemostasis in patients of all ages and in a range of bleeding situations, including acute central nervous system/life-threatening bleeding episodes (15 episodes in 12 patients), non-life-threatening bleeding episodes (>32 episodes in 17 patients), surgery (>40 interventions in 25 patients) and childbirth (three women). Preliminary reports suggest that it may also be effective prophylactically. The risk of thrombosis in FVII-deficient patients treated with rFVIIa is unknown, as is the occurrence of inhibiting antibodies. A postlicensure pharmacovigilance registry (Seven Treatment Evaluation Registry) has been set up to continue to monitor the efficacy and safety (including alloantibody development) of rFVIIa in patients with FVII deficiency.
Factor VII deficiency was diagnosed during haematological investigation of a patient with multiple occurrences of postoperative bleeding after surgical extraction of an impacted upper left canine. The bleeding was eventually stopped with local measures without resorting to blood product transfusion which may have been necessary if local measures had failed to control bleeding. Abnormalities were also found in subsequent blood profiles and coagulation tests in other members of the patient's family.
Inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder associated with a bleeding tendency. We describe three patients with congenital FVII deficiency who have been treated with activated recombinant factor VII (rVIIa). Two patients had novel mutations and were treated prophylactically with 1.2 mg rVIIa two to three times a week. Patients 1 and 2 had a severe bleeding tendency. The frequency and severity of bleeding decreased by treatment with rVIIa compared with similar treatment with plasma-derived FVII. The third patient with a moderate bleeding phenotype was treated on demand and showed no change in the frequency of bleeding upon treatment with rVIIa or plasma products. The beneficial effect of rVIIa cannot be explained by the rVIIa half-lives. Pharmacokinetical analysis showed rVIIa activity half-lives of 35, 50 and 54 min for patients 1, 2 and 3, respectively. In conclusion, prophylactic treatment of FVII deficient patients with rVIIa appears to be applicable, safe and successful, although the mechanism of action remains to be elucidated.
This report describes pregnant sisters with severe factor VII deficiency and peripartum management with factor VII concentrate. In this family, two affected members had previously developed severe postpartum hemorrhage when managed with fresh frozen plasma. Therapy-related complications owing to plasma infusion included viral disease transmission and pulmonary edema. Therefore, to lessen the risks of complications, specific factor therapy was initiated shortly before parturition in both patients. Factor VII concentrate was administered prior to delivery and every 6 hr for the next 72 hr to keep trough levels at approximately 10%. Based on peak and trough levels, the mean factor VII half-lives were determined to be 3.6 and 5.7 hr. Use of the concentrate was associated with uncomplicated delivery and minimal postpartum bleeding.
BACKGROUND: Factor VII deficiency is an autosomal recessive bleeding disorder with an incidence of one in 500,000. Few cases have been reported in pregnancy, and only two patients were treated with recombinant factor VIIa. In the past, fresh frozen plasma or factor VII concentrate has been the conventional treatment for this disorder. CASE: We report a case of factor VII deficiency diagnosed during pregnancy with a factor VII level of 1%. After prophylactic treatment with recombinant factor VIIa, the patient did not manifest any signs or symptoms of excessive bleeding during labor or postpartum. CONCLUSION: Given the inherent risks of transmission of human immunodeficiency virus and hepatitis with blood products, recombinant factor VIIa treatment is an alternative that is safe and effective during labor, delivery, and the puerperium.
A patient with combined factor V and factor VII deficiency is described together with a family study. The propositus appeared to be double heterozygous for factor V and factor VII deficiency. Since the patient showed a parallel decrease of activity and antigen, he appeared to be double heterozygous for a true deficiency. The patient had inherited the factor V defect from the mother and the factor VII defect from the father. The parents of the propositus were not consanguineous. Other family members were found to have isolated factor V or factor VII deficiency. This is the third family so far described with this peculiar combined defect but the first to be investigated by clotting and immunologic assays.
An infant with factor VII deficiency underwent palliative open heart surgery for pulmonary atresia with an intact ventricular septum. No references had been found on the management of this rare coagulation disorder in infantile cardiac surgery. We describe the peri- and postoperative management with a replacement therapy including a recombinant factor VIIa concentrate. We conclude that an appropriate replacement therapy is needed to control bleeding during open heart surgery with factor VII deficiency.