Cattaneo M
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, IRCCS Ospedale Maggiore, University of Milan, Italy.
Int J Clin Lab Res. 1997;27(3):139-44. doi: 10.1007/BF02912449.
Patients with the rare homozygous hereditary defects of homocysteine metabolism that cause severe hyperhomocysteinemia and homocystinuria are at high risk of arterial and venous thrombosis. This prompted studies of the relationship between moderate hyperhomocysteinemia and thrombotic risk in the general population. In the last 2 decades, retrospective case-control studies and prospective cohort studies have demonstrated moderate hyperhomocysteinemia to be a frequent and independent risk factor for premature vascular disease in the coronary, cerebral, and peripheral arteries. More recently, the association of moderate hyperhomocysteinemia with venous thrombosis was shown in patients with early-onset or recurrent disease and in the general population. Genetic and environmental factors act in concert to cause moderate hyperhomocysteinemia. Since inadequate intake of folic acid, vitamin B12, or vitamin B6 are most frequently associated with hyperhomocysteinemia, dietary supplementation of these vitamins could have a tremendous impact on the epidemiology and natural history of arterial and venous thrombotic diseases.
患有罕见的同型半胱氨酸代谢纯合子遗传性缺陷并导致严重高同型半胱氨酸血症和同型胱氨酸尿症的患者，发生动脉和静脉血栓形成的风险很高。这促使人们对普通人群中中度高同型半胱氨酸血症与血栓形成风险之间的关系展开研究。在过去20年中，回顾性病例对照研究和前瞻性队列研究均已证明，中度高同型半胱氨酸血症是冠状动脉、脑动脉和外周动脉过早发生血管疾病的常见且独立的危险因素。最近，在早发或复发性疾病患者以及普通人群中，也发现了中度高同型半胱氨酸血症与静脉血栓形成之间存在关联。遗传因素和环境因素共同作用导致中度高同型半胱氨酸血症。由于叶酸、维生素B12或维生素B6摄入不足最常与高同型半胱氨酸血症相关，因此通过饮食补充这些维生素可能会对动脉和静脉血栓性疾病的流行病学及自然病程产生巨大影响。
