Search results for "Factor VII Deficiency"

Oral Communication

2012

Inherited factor VII (FVII) deficiency is the most common of the rare autosomal recessive bleeding disorders (RBD), with an estimated prevalence of 1 per 300,000 in European countries.1,2 It is likely that the prevalence is higher in those countries where consanguineous marriages are frequent.We here report STER study results on 112 evaluable enrolled cases

Recombinant activated factor VII administration in a patient with congenital lack of factor VII undergoing laparoscopic hysterectomy: A case report

2021

Highlights • Patients with lack of factor VIIa, suffering from abnormal uterine bleedings can be treated with laparoscopic hysterectomy. • Technique using bipolar coagulation and non-absorbable clips is safe and not time consuming. • Pre-operative loading with recombinant factor VIIa must be followed by prolonged supplementation in post-operative period. • We present suggested dosage and length of factor VIIa supplementation based on literature review and own experience.

Recombinant, activated factor VII for surgery in factor VII deficiency: a prospective evaluation - the surgical STER

2011

Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies

2016

Introduction A paucity of data exists on the incidence, diagnosis and treatment of bleeding in women with inherited factor VII (FVII) deficiency. Aim Here we report results of a comprehensive analysis from two international registries of patients with inherited FVII deficiency, depicting the clinical picture of this disorder in women and describing any gender-related differences. Methods A comprehensive analysis of two fully compatible, international registries of patients with inherited FVII deficiency (International Registry of Factor VII deficiency, IRF7; Seven Treatment Evaluation Registry, STER) was performed. Results In our cohort (N = 449; 215 male, 234 female), the higher prevalence…

Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.

2012

We report 2 asymptomatic homozygotes for the nonsense p.R462X mutation affecting the carboxy-terminus of coagulation factor VII (FVII, 466 aminoacids). FVII levels of 3-5% and 2.7 ± 0.4% were found in prothrombin time-based and activated factor X (FXa) generation assays with human thromboplastins. Noticeably, FVII antigen levels were barely detectable (0.7 ± 0.2%) which suggested a gain-of-function effect. This effect was more pronounced with bovine thromboplastin (4.8 ± 0.9%) and disappeared with rabbit thromboplastin (0.7 ± 0.2%). This suggests that the mutation influences tissue factor/FVII interactions. Whereas the recombinant rFVII-462X variant confirmed an increase in specific activit…

Replacement therapy for bleeding episodes in factor VII deficiency: A prospective evaluation

2013

Patients with inherited factor VII (FVII) deficiency display different clinical phenotypes requiring ad hoc management. This study evaluated treatments for spontaneous and traumatic bleeding using data from the Seven Treatment Evaluation Registry (STER). One-hundred one bleeds were analysed in 75 patients (41 females; FVII coagulant activity <1-20%). Bleeds were grouped as haemarthroses (n=30), muscle/subcutaneous haematomas (n=16), epistaxis (n=12), gum bleeding (n=13), menorrhagia (n=16), central nervous system (CNS; n=9), gastrointestinal (GI; n=2) and other (n=3). Of 93 evaluable episodes, 76 were treated with recombinant, activated FVII (rFVIIa), eight with fresh frozen plasma (FFP), s…

Management of Kidney Transplantation in a Factor VII-Deficient Patient: Case Report

2012

Transplantation in patients with congenital bleeding disorders is a challenge requiring an integrated approach of various specialists. Renal transplantation, the most frequent type of solid organ transplantation, is rarely performed in individuals with congenital hemorrhagic disorders. We performed a renal transplantation in a 53-year-old man with end-stage renal disease and congenital coagulation factor VII deficiency, a rare bleeding disorder with a peculiar clinical picture requiring replacement therapy in surgical interventions. Perioperative bleeding was successfully prevented by administration of recombinant activated factor VII. Treatment schedule, administration rate, and long-term …

Replacement therapy in inherited factor VII deficiency: occurrence of adverse events and relation with surgery

2015

International audience

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

2006

Bleeding prophylaxis in a child with cleft palate and factor VII deficiency: a case report. Pirrello R, Siragusa S, Giambona C, D'Arpa S, Cordova A, Moschella F. Source Dipartimento di Discipline Chirurgiche ed Oncologiche, Sezione di Chirurgia Plastica e Ricostruttiva, Università di Palermo, Palermo, Italy. Abstract 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, …

Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy

2017

Factor VII deficiency is the most common among rare inherited autosomal recessive bleeding disorders, and is a chameleon disease due to the lack of a direct correlation between plasma levels of coagulation Factor VII and bleeding manifestations. Clinical phenotypes range from asymptomatic condition—even in homozygous subjects—to severe life-threatening bleedings (central nervous system, gastrointestinal bleeding). Prediction of bleeding risk is thus based on multiple parameters that challenge disease management. Spontaneous or surgical bleedings require accurate treatment schedules, and patients at high risk of severe hemorrhages may need prophylaxis from childhood onwards. The aim of the c…