Possible homozygous factor VIIR disorder associated with fibrinolytic hyperactivity.
A family with inherited factor VII deficiency is described. The propositus is a 9-year-old girl with chronic haemorrhagic history of epistaxis and bleeding after tooth extractions. Her factor VII coagulant activity was less than 3% using rabbit thromboplastin. She had a factor VII antigen level of 50%. Both parents were heterozygous for factor VII deficiency. The father had procoagulant factor VII (VII-C) of 44% and factor VII antigen (VII-Ag) of 74%, and the mother had 54% of factor VII-C and 85% of VII-Ag. Her only brother had normal levels of factor VII-C (100%). Additionally, some abnormalities in the fibrinolytic system were detected both in the propositus and her brother with shortened euglobulin lysis times and increased functional levels of plasminogen activator. To our knowledge, the clinical association of inherited factor VII deficiency and familial fibrinolytic disturbances has not been described so far.
D001780:Blood Coagulation Tests; D002648:Child; D005168:Factor VII Deficiency / Q000097:blood* / Q000235:genetics; D005260:Female; D005342:Fibrinolysis; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D010375:Pedigree