Carriers of factor VII deficiency are not always asymptomatic.
Seven children, referred because of bleeding symptoms, proved to be heterozygotes for factor VII deficiency. Abnormal bruising was the commonest symptom (6/7), followed by postoperative bleeding (4/7). One case had recurrent epistaxis. Results on the patients and their families are presented. Prothrombin times were prolonged by 2-3 s and factor VII assays ranged from 25 to 55% (mean 38%). The cases are reported because they bled excessively: yet it is usually stated that carriers for factor VII deficiency are symptom-free. One case of homozygous factor VII deficiency is also described: the parents (who are heterozygotes) were symptom-free.
D001760:Bleeding Time; D002648:Child; D002675:Child, Preschool; D003288:Contusions / Q000209:etiology; D004844:Epistaxis / Q000209:etiology; D005167:Factor VII / Q000032:analysis; D005168:Factor VII Deficiency / Q000150:complications / Q000235:genetics*; D005260:Female; D006470:Hemorrhage / Q000209:etiology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010314:Partial Thromboplastin Time; D011183:Postoperative Complications / Q000209:etiology; D011517:Prothrombin Time
D005167:Factor VII