Confalonieri M, Parigi P, Scartabellati A, Aiolfi S, Patrini G, Ghio L, Mauri F, Gandola L
Divisione di Pneumologia, Ospedale Maggiore di Crema, Italy.
Monaldi Arch Chest Dis. 1995 Apr;50(2):114-5.
Heterozygosity for homocysteinuria is a common, inherited autosomal condition that has recently been considered as an independent cardiovascular risk factor. In vitro and in vivo results suggest that this condition, like the homozygous form, is also a risk factor for deep-venous thrombosis and pulmonary thromboembolism. We report a case of recurrent pulmonary thromboembolism in a young woman with familial hyperhomocysteinaemia. The relative frequency of this condition, as well as its simple and harmless cure, make testing for heterozygosity for homocysteinuria useful and profitable in the prevention of pulmonary thromboembolism, above all in younger subjects with a significant case history.
同型胱氨酸尿症杂合子是一种常见的常染色体遗传性疾病，最近被认为是一种独立的心血管危险因素。体外和体内研究结果表明，这种情况与纯合子形式一样，也是深静脉血栓形成和肺血栓栓塞的危险因素。我们报告了一例年轻女性家族性高同型半胱氨酸血症反复发生肺血栓栓塞的病例。这种疾病的相对发病率及其简单无害的治疗方法，使得检测同型胱氨酸尿症杂合子在预防肺血栓栓塞方面有用且有益，尤其是在有重要病史的年轻患者中。
