Schievink W I, Meyer F B, Parisi J E, Wijdicks E F
Department of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota, USA.
Neurosurgery. 1998 Aug;43(2):229-33; discussion 233-4. doi: 10.1097/00006123-199808000-00022.
A deficiency of alpha1-antitrypsin has been implicated in the development of various disorders affecting medium-sized arteries, including intracranial aneurysms, cervicocephalic arterial dissections, and fibromuscular dysplasia (FMD). We performed alpha1-antitrypsin phenotyping in three consecutive patients who underwent bypass surgery for FMD of the extracranial internal carotid artery to test the hypothesis that alpha1-antitrypsin deficiency is a genetic risk factor for the development of FMD.
The study population consisted of three women (aged 37, 49, and 53 years, respectively) who had bilateral internal carotid artery stenosis caused by FMD. The indications for surgery included ocular or cerebral ischemic symptoms in two patients and progressive stenosis in one patient. The diagnosis of FMD was confirmed by histological examination of the resected segment of artery. The alpha1-antitrypsin phenotype was determined by isoelectric focusing in polyacrylamide gels.
Two of the three patients had a heterozygous alpha1-antitrypsin deficiency (PiMZ phenotype). Pathological examination of the resected arterial segment showed typical medial FMD with focal intimal fibroplasia in both patients with the PiMZ phenotype.
These findings suggest that a heterozygous alpha1-antitrypsin deficiency may be a genetic risk factor for the development of FMD of the internal carotid artery.
α1-抗胰蛋白酶缺乏与多种影响中动脉的疾病发展有关，包括颅内动脉瘤、颈脑动脉夹层和纤维肌发育不良（FMD）。我们对连续3例因颅外颈内动脉FMD接受搭桥手术的患者进行了α1-抗胰蛋白酶表型分析，以检验α1-抗胰蛋白酶缺乏是FMD发生的遗传危险因素这一假设。
研究人群包括3名女性（分别为37岁、49岁和53岁），她们均因FMD导致双侧颈内动脉狭窄。手术指征包括2例患者出现眼部或脑部缺血症状，1例患者出现进行性狭窄。FMD的诊断通过对切除的动脉段进行组织学检查得以证实。α1-抗胰蛋白酶表型通过在聚丙烯酰胺凝胶中进行等电聚焦来确定。
3例患者中有2例存在杂合性α1-抗胰蛋白酶缺乏（PiMZ表型）。对切除的动脉段进行病理检查显示，两名具有PiMZ表型的患者均有典型的中膜FMD伴局灶性内膜纤维增生。
这些发现表明，杂合性α1-抗胰蛋白酶缺乏可能是颈内动脉FMD发生的遗传危险因素。
