Sakuragawa N, Takahashi K, Kondo S, Koide T
Thromb Res. 1983 Jul 15;31(2):305-17. doi: 10.1016/0049-3848(83)90333-x.
A familial abnormal antithrombin III (AT-III) is reported. The characteristic of the abnormality in this family is low heparin cofactor activity with normal progressive antithrombin activity and normal or rather increased level of AT-III antigen. The patient is a 23-year-old female who had suffered from recurrent thrombophlebitis involving her lower extremities. Her plasma AT-III antigen concentration was 54 mg/dl and progressive antithrombin and factor Xa inhibitory activities were of normal level. However, the heparin cofactor activity of her plasma was as low as 26% of normal control. On crossed immunoelectrophoresis (CIE) containing heparin in the first dimension agarose, patient's AT-III showed no increase in electrophoretic mobility compared to that in the absence of heparin, suggesting that the patient's AT-III has no affinity for heparin. From CIE pattern in the presence of heparin, the patient was found to be a homozygote, and parents and one of her younger sisters were heterozygotes. Thus, the mode of inheritance is proposed to be autosomal dominant.
报道了一例家族性异常抗凝血酶III（AT-III）。该家族中异常的特征是肝素辅因子活性低，而进行性抗凝血酶活性正常，且AT-III抗原水平正常或略有升高。患者为一名23岁女性，曾反复发生累及下肢的血栓性静脉炎。她的血浆AT-III抗原浓度为54mg/dl，进行性抗凝血酶和因子Xa抑制活性处于正常水平。然而，她血浆的肝素辅因子活性低至正常对照的26%。在一维琼脂糖中含有肝素的交叉免疫电泳（CIE）中，与无肝素时相比，患者的AT-III电泳迁移率没有增加，这表明患者的AT-III对肝素没有亲和力。从有肝素存在时的CIE图谱来看，发现该患者为纯合子，其父母和一个妹妹为杂合子。因此，遗传方式被认为是常染色体显性遗传。
