Another Family with the Factor VII Padua Clotting Defect

Another family with the factor VII Padua defect is described. The proposita is a 18-year-old female who presented easy bruising and epistaxis. The main laboratory features of the defect are: prolonged prothrombin time, normal partial thromboplastin time, normal Stypven-cephalin clotting time and normal Thrombotest. Factor VII activity is low when assayed using rabbit brain thromboplastin but is normal when assayed using ox brain thromboplastin. The parents of the proposita were consanguineous (first cousins) and were heterozygotes. Other family members were also shown to be heterozygotes for the abnormality. The present patient is not related to the other family with this disorder. The abnormality may be more widespread than originally thought.