Rotoli B, D'Avino R, Chiurazzi F
Acta Haematol. 1983;69(2):117-22. doi: 10.1159/000206867.
A patient suffering from cardiochalasia was found to be partially deficient in both coagulation factors V and VII. No bleeding tendency had been noticed. A family study showed that the father had factor VII deficiency with normal factor V, while the mother and 2 sisters had a reduced level of factor V and normal factor VII. Thus, the combined deficiency was due to chance association of two distinct independently segregating genetic defects. While a number of combinations of coagulation factor deficiency have been previously described, this, to be best of our knowledge, is the first instance of combined deficiency of factor V and VII reported so far.
一名患有贲门失弛缓症的患者被发现凝血因子V和VII均部分缺乏。未观察到出血倾向。一项家族研究表明，父亲有因子VII缺乏而因子V正常，而母亲和两个姐妹的因子V水平降低且因子VII正常。因此，这种联合缺乏是由于两个不同的独立分离的遗传缺陷偶然关联所致。虽然先前已经描述了多种凝血因子缺乏的组合，但据我们所知，这是迄今为止报道的第一例因子V和VII联合缺乏的病例。
