title: Carriers of factor VII deficiency are not always asymptomatic.
abstract: 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.
mesh_terms: 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
chemical_list: D005167:Factor VII