Molecular analysis in a patient with severe factor VII deficiency and an inhibitor: report of a novel mutation (S103G)

Pruthi, Rajiv K.; Rodriguez, Vilmarie; Allen, Cory; Slaby, J. A.; Schmidt, Kirstin; Plumhoff, Elizabeth A.

doi:10.1111/j.1600-0609.2007.00916.x

Cited by 16 publications

(13 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The structural differences between the endogenous and therapeutic proteins increase the risk of immune complications. Currently, little is known about the prevalence of antibodies against FVIIa in FVII-deficient patients undergoing treatment with rFVIIa and there are only a few cases published in the literature [3][4][5][6][7]. Interestingly, in the majority of these cases, the presence of an inhibitor did not apparently impair the therapeutic efficacy of rFVIIa therapy, dissimilar to the case described here.…”

contrasting

confidence: 72%

A new report of FVII‐inhibitor in a patient suffering from severe congenital FVII deficiency

et al. 2015

View full text Add to dashboard Cite

contrasting

confidence: 72%

A new report of FVII‐inhibitor in a patient suffering from severe congenital FVII deficiency

et al. 2015

View full text Add to dashboard Cite

“…25,30,38,39 The one patient in this series with an inhibitor developed it before the initiation of prophylaxis. 25 Nevertheless, prophylaxis with rFVIIa was started because of persisting, severe bleeding episodes and proved to be very effective in preventing recurrent central nervous system hemorrhages.…”

Section: Discussionmentioning

confidence: 81%

Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER)

et al. 2013

View full text Add to dashboard Cite

Because of the very short half-life of factor VII, prophylaxis in factor VII deficiency is considered a difficult endeavor. The clinical efficacy and safety of prophylactic regimens, and indications for their use, were evaluated in factor VII-deficient patients in the Seven Treatment Evaluation Registry. Prophylaxis data (38 courses) were analyzed from 34 patients with severe factor VII deficiency (<1-45 years of age, 21 female). Severest phenotypes (central nervous system, gastrointestinal, joint bleeding episodes) were highly prevalent. Twenty-one patients received recombinant activated factor VII (24 courses), four received plasma-derived factor VII, and ten received freshfrozen plasma. Prophylactic schedules clustered into "frequent" courses (three times weekly, n=23) and "infrequent" courses (≤2 times weekly, n=15). Excluding courses for menorrhagia, "frequent" and "infrequent" courses produced 18/23 (78%) and 5/12 (41%) "excellent" outcomes, respectively; relative risk, 1.88; 95% confidence interval, 0.93-3.79; P=0.079. Long-term prophylaxis lasted from 1 to >10 years. No thrombosis or new inhibitors occurred. In conclusion, a subset of patients with factor VII deficiency needed prophylaxis because of severe bleeding. Recombinant activated factor VII schedules based on "frequent" administrations (three times weekly) and a 90 mg/kg total weekly dose were effective. These data provide a rationale for long-term, safe prophylaxis in factor VII deficiency (clinicaltrials.gov: NCT01269138). Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER)

show abstract

“…Anecdotal reports of inhibitors to FVII have been previously published in the literature, including reports from members of our group (Nicolaisen et al, 1996;Mariani et al, 1999;Ingerslev et al, 2005;Pruthi et al, 2007, Batorova et al, 2007Tokgoz et al, 2012). Here, we report a prospective study in which screening for FVII antibodies was performed according to a specific protocol within the frame of the Seven Treatment Evaluation Registry (STER), which also collected data on the treatment of spontaneous bleeding episodes, surgical interventions and prophylaxis in patients with congenital FVII deficiency over an 8-year period (Mariani et al, 2011;Mariani et al, 2012b;Mariani et al, 2013;Napolitano et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Inhibitors to factor VII in congenital factor VII deficiency

et al. 2014

View full text Add to dashboard Cite

Running title: FVII inhibitors in congenital FVII deficiency: the STER [55 characters; maximum 60 characters and spaces]2 SummaryCongenital factor VII (FVII) deficiency is a rare bleeding disorder, and few anecdotal reports are available regarding FVII inhibitors. Using data from the Seven Treatment Evaluation Registry (STER; 225 patients, 312 treatments), we have prospectively evaluated the occurrence of FVII inhibitors using a standardized method over a period of 8 years. The central laboratory screened 115 paired samples; FVII inhibitors were detected in 3/115 (2.6%) patients (one de novo inhibitor and two pre-existing inhibitors). A fourth inhibitor was detected in a patient who had been screened locally. All four patients had high-responding inhibitors (10-72 BU) and had previously received factor replacement therapy. In three patients, the inhibitors appeared before the age of 6 months during prophylaxis following central nervous system or gastrointestinal bleeds; however, treatments were continued without apparent loss of efficacy. In one patient, an inhibitor developed in adulthood after replacement therapy for minor surgery. No anaphylactoid reactions or renal complications were reported during or after prophylaxis. In conclusion, inhibitor development is rare in patients with congenital FVII deficiency (2%), with an incidence similar to that in patients with haemophilia B. FVII inhibitors display immunological (anamnesis) and kinetic features similar to those in patients with haemophilia. Summary word count: 198 words (maximum 200 words)

show abstract

Molecular analysis in a patient with severe factor VII deficiency and an inhibitor: report of a novel mutation (S103G)

Cited by 16 publications

References 23 publications

A new report of FVII‐inhibitor in a patient suffering from severe congenital FVII deficiency

A new report of FVII‐inhibitor in a patient suffering from severe congenital FVII deficiency

Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER)

Inhibitors to factor VII in congenital factor VII deficiency

Contact Info

Product

Resources

About