title: [Significant decrease in factor VII activity by tissue thromboplastin derived from rabbit brain in a patient with congenital factor VII deficiency (FVII Padua)].
abstract: Congenital factor VII (FVII) deficiency is a bleeding disorder that requires optimal hemostatic management for each case due to its wide variety of bleeding symptoms. We experienced a patient with inherited FVII deficiency who demonstrated different FVII activities depending on tissue thromboplastins used for assays. An 82-year-old woman without any episodes of abnormal bleeding was found to have different FVII activities of 1.4% and 32% when assayed using thromboplastins from rabbit brain and human placenta, respectively. DNA sequencing analysis revealed a homozygous missense mutation of G10828A (FVII Padua) that caused an amino acid substitution of Arg304 to Gln (R304Q). Carriers of 304Q alleles are usually clinically asymptomatic and do not require FVII replacement therapies even in cases of homozygotes. In case a prolonged prothrombin time or reduced FVII activity is detected, re-examination using thromboplastins of other sources can be helpful for preliminary diagnosis of R304Q, in order to prevent unnecessary FVII replacement therapies.
authors.affiliation: Department of Clinical Laboratory Science, Kanazawa University Graduate School.
authors.forename: Akiko
authors.initials: A
authors.lastname: Sekiya
authors.forename: Eriko
authors.initials: E
authors.lastname: Morishita
authors.forename: Keiko
authors.initials: K
authors.lastname: Maruyama
authors.forename: Hidesaku
authors.initials: H
authors.lastname: Asakura
authors.forename: Shinji
authors.initials: S
authors.lastname: Nakao
authors.forename: Shigeki
authors.initials: S
authors.lastname: Ohtake
mesh_terms: D000369:Aged, 80 and over; D019943:Amino Acid Substitution / Q000235:genetics; D000818:Animals; D005167:Factor VII / Q000235:genetics*; D005168:Factor VII Deficiency / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense; D011817:Rabbits; D013925:Thromboplastin
chemical_list: C080432:Factor VII Padua; D005167:Factor VII; D013925:Thromboplastin