The Congenital Variants of the Prothrombin Complex Factors

Twenty-three patients with congenital factor VII (FVII) deficiency, belonging to 9 kindreds were studied. Immunological variants were classified according to the relationship between FVII coagulant activity (FVIIC) and the level of FVII antigen (FVIIAg), considering 3 previously described groups: VII-, VII+ and VIIR. Activation variants were determined by the reactivity pattern with three different thromboplastins. One patient was classified as VII-, 16 as VII+, and 6 as VIIR. Three patients belonging to the same kindred showed a Padua 2 FVII deficiency, and 1 patient showed a Padua 1 variant. There was no correlation between antigenic or activation variants and severity of bleeding tendency. Classical autosomal recessive mode of inheritance was observed in VII- and VII+ families. Nevertheless, a possible autosomal dominant trait was observed in VII+ kindreds.

Section: Resultscontrasting

confidence: 37%

Section: Introductionmentioning

confidence: 99%

Study of Different Factor VII Deficiency Variants in Nine Families from Spain

Pardo

Oteyza²,

Blanco³

et al. 1987

“…There is considerable confusion regarding this aspect as different approaches to the study of homozygotes have been em ployed [2][3][4][5][6][7][8][9][10][11][12],…”

Section: The Variantsmentioning

confidence: 99%

Factor VII Congenital Deficiency

Mariani¹,

Mazzucconi²

1983

In congenital factor VII deficiency the clinical picture is related to the levels of factor VII coagulant activity; when factor VΠ:C levels are very low the bleeding episodes can occur frequently. The most frequent bleedings are menorrhagia and metrorrhagia in females and hemarthrosis in both sexes. There are 3 immunological variants of factor VII deficiency: VII^-, VII^R and VII⁺. Conversely, the genetic variants are 2: one characterized by no discrepancy between VII:C and VII·Ag (found in the heterozygotes of VII- and VIIR variants) and the other, in which a discrepancy between VII:C and VIL·Ag is found (heterozygotes from VII⁺ kindreds). In factor VII deficiency, most commonly the human and ox tissue factors show the highest sensitivity to the coagulation defect, whereas the one extracted from rabbits is definitely less sensitive; the definition of functional variants is based upon a different reactivity to homologous and/or heterologous tissue thromboplastins. In no case was a PIVKA-VII-like protein found and none of the factor VII defective molecules reacted to the generation of important kallikrein activity.

“…During the past few years, occasional pa tients were described in whom an excess of factor VII protein versus the clotting counter part was found (VII+) [2,[4][5][6][7][8][10][11][12], As was already known for other factors: fibrinogen, factor II, factor IX, factor X [9], the concept of dysproconvertinemia was introduced. The abnormal factor VII reported in this paper can be activated only very slowly by rabbit brain thromboplastin, but it can still be activated by ox brain thromboplastin.…”

Section: Discussionmentioning

confidence: 99%

Factor VII Padua 1

Croze¹,

Brizard²

1982

A patient with a peculiar factor VII is described. The propositus is a 70-year-old man without any bleeding tendency. The coagulation pattern is characterized by a prolonged rabbit brain prothrombin time, a normal Stypven cephalin clotting time and a normal throm-botest. Factor VII activity is low when assayed using rabbit brain thromboplastin but is normal when assayed using ox brain thromboplastin. The neutralization test performed with an antifactor VII antiserum revealed a normal factor VII antigen level. A pedigree study has not been possible, the patient having no living relatives. No differences were observed between the biological results of our patient and those described by Girolami as factor VII + Padua.