Martinelli Ida, Bucciarelli Paolo, Zighetti Maddalena L, Cafro Anna, Mannucci Pier M
Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, Luigi Villa Foundation, IRCCS Maggiore Hospital and University of Milan, Via Pace 9, 20122 Milan, Italy.
Br J Haematol. 2002 Jun;117(3):709-11. doi: 10.1046/j.1365-2141.2002.03489.x.
Mild to moderate hyperhomocysteinaemia, a metabolic disorder due to genetic and/or acquired factors, is associated with an increased risk of venous and arterial thrombosis. To establish whether measuring homocysteine in members of families of hyperhomocysteinaemic patients is warranted, we investigated 169 relatives of patients diagnosed with hyperhomocysteinaemia after they developed arterial or venous thrombosis. The prevalence of hyperhomocysteinaemia was 16.6%; the relative risk of thrombosis in relatives with hyperhomocysteinaemia compared to those without was 1.2 (odds ratio; 95% CI 0.24-4.2), with similarly low absolute annual incidences of thrombosis (0.28% and 0.24%). The low prevalence of hyperhomocysteinaemia among relatives of patients with this metabolic disorder, and their low risk of thrombosis, do not justify family screening.
轻至中度高同型半胱氨酸血症是一种由遗传和/或后天因素引起的代谢紊乱，与静脉和动脉血栓形成风险增加有关。为了确定对高同型半胱氨酸血症患者的家庭成员进行同型半胱氨酸检测是否必要，我们调查了169名在发生动脉或静脉血栓形成后被诊断为高同型半胱氨酸血症患者的亲属。高同型半胱氨酸血症的患病率为16.6%；与未患高同型半胱氨酸血症的亲属相比，患高同型半胱氨酸血症亲属的血栓形成相对风险为1.2（比值比；95%可信区间0.24 - 4.2），血栓形成的绝对年发病率同样较低（0.28%和0.24%）。这种代谢紊乱患者亲属中高同型半胱氨酸血症的低患病率及其低血栓形成风险，使得家族筛查没有必要。
