Report of the fifth homozygous patient with factor VII Padua defect.
A new patient with factor VII Padua abnormality is presented. The propositus is a 70 old man who showed a mild bleeding tendency characterized by occasional epistaxis and a laboratory pattern of prolonged prothrombin time corrected by normal serum, normal partial thromboplastin time and normal Thrombotest. Factor VII activity was 7% using rabbit brain thromboplastin and 105% of normal using ox-brain thromboplastin. Intermediate levels were found by using thromboplastin of human origin. Factor VII cross-reacting material was normal. Parents were not consanguineous but both came from the same area. Two children of the propositus were found, as expected, to be homozygous for the abnormality. No relationship could be traced between the propositus and the other homozygous patients already reported. However, the patient came from the same geographic area, namely the Piave river valley in northeastern Italy. The discovery of the present patient, the fifth in four years, indicates that the defect might be more frequent than originally assumed.
D000368:Aged; D000818:Animals; D001778:Blood Coagulation Disorders / Q000235:genetics*; D001780:Blood Coagulation Tests; D001923:Brain Chemistry; D002417:Cattle; D005167:Factor VII / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008168:Lung / Q000032:analysis; D008297:Male; D010375:Pedigree; D011817:Rabbits; D013925:Thromboplastin / Q000302:isolation & purification
D005167:Factor VII; D013925:Thromboplastin