Factor VII congenital deficiency. Clinical picture and classification of the variants.
In congenital factor VII deficiency the clinical picture is related to the levels of factor VII coagulant activity; when factor VII: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-, VIIR 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 VII: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.
D000818:Animals; D000941:Antigens / Q000032:analysis / Q000235:genetics; D001780:Blood Coagulation Tests; D002417:Cattle; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D003429:Cross Reactions; D005167:Factor VII / Q000235:genetics* / Q000276:immunology; D005168:Factor VII Deficiency / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D006801:Humans; D008297:Male; D011817:Rabbits; D013925:Thromboplastin / Q000502:physiology
D000941:Antigens; D005167:Factor VII; D013925:Thromboplastin