抗凝血酶Ⅲ缺乏症最先由Egeberg(1965)报告,其后又有零星的报道,迄今世界仅有数十例报告。本症为一常染色体显性遗传性疾病,其特征是血中重要的循环抗凝因子之一,抗凝血酶Ⅲ(antithrombin Ⅲ,ATⅢ)含量不足,以致多于少年时期,即有家族性发生的各种血栓和栓塞症的一种病症。对本症,各家命名不同,有家族性AT Ⅲ缺乏症、遗传性AT Ⅲ缺乏症或AT Ⅲ遗传性缺乏等。据推测,本症并不少见,在大约2000人中,即可能有1例。但要确诊为家族性AT Ⅲ缺乏症,至少须有三代患病的资料。发病机理:ATⅢ是对生理情况下的血液凝固系 Antithrombin III deficiency was first reported by Egeberg (1965) and then sporadically, with only a few dozen reported in the world so far. The disease is an autosomal dominant genetic disease, which is characterized by the blood of one of the important circulating anticoagulant factor, antithrombin Ⅲ (antithrombin Ⅲ, AT Ⅲ) content is insufficient, so that more than in adolescence, that is, familial A variety of thrombosis and embolism occurs. For this disease, each name is different, familial AT Ⅲ deficiency, inherited AT Ⅲ deficiency or AT Ⅲ genetic deficiency. It is speculated that the disease is not uncommon, in about 2000 people, that is, there may be 1 case. But to be diagnosed as familial AT Ⅲ deficiency, at least three generations of sickness information. Pathogenesis: AT Ⅲ is a physiological condition of the blood coagulation system