Hereditary factor VII deficiency: report of a case of intracranial hemorrhage.
A case of factor VII deficiency in a 52-year-old woman who developed central nervous system hemorrhage is here reported. Screening coagulation tests were all normal except for prothrombin time, normotest and thrombotest. Specific assays of vitamin K-dependent factors revealed that factor VII activity was reduced (11 U/dl). The studies of the family demonstrated that 2 sisters out of 4 were heterozygous for the defect. The activity of factor VII in the offspring, classified as obligatory carriers, ranged between 62 and 78 U/dl, the antigen between 55 and 75 U/dl. The wide variability of factor VII in normal people and the possible compensative effect of normal alleles in carriers do not allow to define the variant, namely if the patient is a CRMR homozygote or a CRMR/CRM-double heterozygote.
D000941:Antigens / Q000378:metabolism; D001780:Blood Coagulation Tests; D001803:Blood Transfusion; D002543:Cerebral Hemorrhage / Q000097:blood / Q000235:genetics* / Q000628:therapy; D005167:Factor VII / Q000276:immunology / Q000378:metabolism*; D005168:Factor VII Deficiency / Q000097:blood / Q000235:genetics* / Q000628:therapy; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D011517:Prothrombin Time
D000941:Antigens; C031500:factor VII related antigen; D005167:Factor VII