Girolami A, Sartori M T, Rossi C, Cogo A, Zerbinati P
Institute of Medical Semeiotics, IV Chair of Internal Medicine, University of Padua Medical School, Italy.
Blood Coagul Fibrinolysis. 1995 Oct;6(7):676-9. doi: 10.1097/00001721-199510000-00009.
The association between heterozygous factor VII deficiency and severe hemophilia A in the same family is described. The 18-year-old proposita had a negative personal history for bleeding events and underwent clotting evaluation after a fortuitous finding of a prolonged PT. Decreased levels of both factor VII activity and antigen to about 50% of normal, compatible with heterozygous deficiency, were found in her and in three other asymptomatic siblings. Two uncles on the paternal side had severe hemophilia A and also showed low factor VII levels. However, in these two patients factor VII deficiency was secondary to chronic liver disease due to hepatitis B and C virus infections. Combined clotting defects in the same kindred may be due to an independent segregation of two separate defects or to common gene(s) malfunction. Factor VII deficiency is frequent and probably underestimated in the general population. For these reasons factor VII deficiency can easily segregate with other clotting defects.
本文描述了同一家庭中杂合子因子VII缺乏症与严重A型血友病之间的关联。18岁的先证者个人出血史阴性，因偶然发现凝血酶原时间（PT）延长而接受凝血评估。在她以及另外三名无症状的兄弟姐妹中，发现因子VII活性和抗原水平均降至正常的约50%，符合杂合子缺乏症。父系的两位叔叔患有严重的A型血友病，且因子VII水平也较低。然而，这两名患者的因子VII缺乏是由乙型和丙型肝炎病毒感染所致的慢性肝病继发的。同一亲属中合并的凝血缺陷可能是由于两个独立缺陷的独立分离，或由于共同基因功能异常。因子VII缺乏在普通人群中很常见，可能被低估。由于这些原因，因子VII缺乏很容易与其他凝血缺陷同时出现。
