抄録
A family of congenital factor VII deficiency is presented. The proband is a 46-year-old male who had been suffering from recurrent epistaxis and easy bruising until 20 years old, when he started to be less hemorrhagic and his youngest brother had the same hemorrhagic diathesis.
They were born of a consaguineous marriage and presented marked prolongation of one stage prothrombin time, normal partial thromboplastin time and normal stypven clotting time.
Their factor VII levels were 5.2% and 6.0%, respectively. Including these 2 patients, 11 members of the family were investigated. Three had normal factor VII activity, and 6 had 36∼54% of normal who were thought to be heterozygotes.
Factor VII activities of the proband were assayed with the use of several different kinds of tissue thromboplastin, where there was no significant difference between them.
Two thousand units of factor VII concentrate (Factor VII Concentrate Human IMMUNO) was given to the proband. The activity immediately reached to the expected value, which continued for 180 minutes and then decreased slowly. According to this infusion trial, the half life of factor VII in vivo was estimated to be 240∼300 minutes, which was quite similar to the result reported by us in 1976.
The levels of other coagulation factors were within normal ranges. Routine liver function tests, liver scintigram and laparoscopic findings were also normal. From these results, the posibility of acquired factor VII deficiency was ruled out.
To the best of our knowledge, there have been 14 reported cases of congenital factor VII deficiency in Japan which were reviewed briefly in this paper.
