Mudd S H, Havlik R, Levy H L, McKusick V A, Feinleib M
Am J Hum Genet. 1981 Nov;33(6):883-93.
Early atherosclerotic-like lesions and thromboemobolic problems are prominent in homocystinuric patients. Recent evidence suggested that mild homocyst(e)inemia, such as is present in heterozygotes for homocystinuria due to cystathionine synthase deficiency, may cause a marked excess in early ischemic heart disease. To evaluate the risk due to mild homocyst(e)inemia, the frequencies of heart attacks and strokes in parents and grandparents of homocystinuric children were assessed in the present study. No statistically significant increases in the incidence of heart attacks or strokes were consistently detected. The data available are sufficient to virtually exclude an increase in the cardiovascular risk for homocystinuria heterozygotes of as much as fivefold compared to controls, and to make very improbable a relative risk of as much as threefold. Less than 5% of homocystinuria heterozygotes are likely to have a fatal or nonfatal heart attack by age 50. These results fail to suggest that mild homecyst(e)inemia is an important contributory factor in the overall incidence of cardiovascular disease.
早期动脉粥样硬化样病变和血栓栓塞问题在同型胱氨酸尿症患者中很突出。最近的证据表明，轻度高同型半胱氨酸血症，如因胱硫醚合成酶缺乏导致的同型胱氨酸尿症杂合子中存在的情况，可能会显著增加早期缺血性心脏病的发病率。为了评估轻度高同型半胱氨酸血症的风险，本研究评估了同型胱氨酸尿症儿童的父母和祖父母中心脏病发作和中风的发生率。未持续检测到心脏病发作或中风发生率有统计学意义的增加。现有数据足以实际上排除同型胱氨酸尿症杂合子与对照组相比心血管风险增加多达五倍的情况，并且使相对风险高达三倍的可能性极小。不到5%的同型胱氨酸尿症杂合子在50岁时可能发生致命或非致命的心脏病发作。这些结果并未表明轻度高同型半胱氨酸血症是心血管疾病总体发病率的重要促成因素。
