title: Primary prophylaxis for children with severe congenital factor VII deficiency - Clinical and laboratory assessment.
abstract: Severe congenital factor VII (FVII) deficiency is a rare bleeding disorder. Prophylaxis with replacement therapy has been suggested to patients, yet the most beneficial dosing regimens and therapy intervals are still to be defined. Due to the lack of evidence-based data, we hereby present our experience with long-term administration and monitoring primary prophylaxis in children with severe FVII deficiency and an extremely high bleeding risk. Four children with familial FVII deficiency, treated by prophylactic recombinant activated factor VII (rFVIIa), 15-30μg/kg/dose, given 2-3 times weekly since infancy, are discussed. Clinical follow up and monitoring laboratory assays, including thrombin generation, measured at various time points after prophylactic rFVIIa administration are presented. Among our treated patients neither FVII activity nor thrombin generation parameters (both already declined 24h post rFVIIa administration) were able to predict the impact of prophylaxis, and could not be used as surrogate markers in order to assess the most beneficial treatment frequency. However, the long clinical follow-up and comprehensive laboratory assessment performed, have shown that early primary prophylaxis as administered in our cohort was safe and effective.
authors.affiliation: Blood Coagulation Service and Pediatric Hematology Clinic, Galilee Medical Center, Nahariya, Israel; Faculty of Medicine in the Galilee, Bar-Ilan University, Henrietta Szold St. 8, POB 1589, Safed, Israel.
authors.forename: A A
authors.initials: AA
authors.lastname: Kuperman
authors.affiliation: The Israeli National Hemophilia Center and Thrombosis Unit, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University, Israel.
authors.forename: A A
authors.initials: AA
authors.lastname: Barg
authors.affiliation: Department of Pediatric Emergency Care and Pediatric Hematology Unit, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheba, Israel.
authors.forename: Y
authors.initials: Y
authors.lastname: Fruchtman
authors.affiliation: Blood Coagulation Service and Pediatric Hematology Clinic, Galilee Medical Center, Nahariya, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Shaoul
authors.affiliation: The Israeli National Hemophilia Center and Thrombosis Unit, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University, Israel.
authors.forename: N
authors.initials: N
authors.lastname: Rosenberg
authors.affiliation: The Israeli National Hemophilia Center and Thrombosis Unit, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University, Israel.
authors.forename: G
authors.initials: G
authors.lastname: Kenet
authors.affiliation: The Israeli National Hemophilia Center and Thrombosis Unit, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University, Israel. Electronic address: tami.livnat@sheba.health.gov.il.
authors.forename: T
authors.initials: T
authors.lastname: Livnat
mesh_terms: D002648:Child; D002675:Child, Preschool; D005168:Factor VII Deficiency / Q000097:blood / Q000150:complications / Q000378:metabolism / Q000517:prevention & control*; D015942:Factor VIIa / Q000008:administration & dosage / Q000627:therapeutic use*; D005260:Female; D006470:Hemorrhage / Q000097:blood / Q000209:etiology / Q000378:metabolism / Q000517:prevention & control; D006801:Humans; D008297:Male; D011994:Recombinant Proteins / Q000008:administration & dosage / Q000627:therapeutic use; D013917:Thrombin / Q000378:metabolism
chemical_list: D011994:Recombinant Proteins; C103587:recombinant FVIIa; D015942:Factor VIIa; D013917:Thrombin
keywords: FVII deficiency; Prophylaxis; Recombinant activated factor VII (rFVIIa); Thrombin generation