Ammouri W, Tazi Z Mezalek, Harmouche H, Maamar M, Adnaoui M
Internal Medicine Department, Ibn Sina Hospital, University Mohamed V of Medicine, Rue Lamfadel Cherkaoui, BP 6527, Rabat, Morocco.
J Med Case Rep. 2017 Sep 2;11(1):250. doi: 10.1186/s13256-017-1415-z.
Hyperhomocysteinemia has been suspected of favoring thrombosis. Several case-control studies and even a meta-analysis have confirmed a link between venous thrombosis and hyperhomocysteinemia. Homocysteine is due to genetic and acquired factors (poor diet in folate and vitamin B12, older age, renal impairment, thyroid diseases, and malignancies) induced by the intake and the concentrations of vitamin B9 or B12 in the majority of cases.
We report the cases of four Moroccan patients who presented with acute vein thrombosis of different sites: a 34-year-old man, a 60-year-old man, a 58-year-old man, and a 47-year-old woman. All patients had a low level of cobalamin with marked hyperhomocysteinemia with normal serum and red cell folic acid. Venous thrombosis revealed pernicious anemia in all patients. Their low levels of cobalamin, atrophic gastritis, and positive results for gastric parietal cell antibodies confirmed the diagnosis of pernicious anemia. There was no evidence of immobilization, recent surgery, malignancy, antiphospholipid antibody, myeloproliferative disorder, or hormone replacement therapy. No deficiencies in protein C and protein S were detected; they had normal antithrombin III function and factor V Leiden; no prothrombin gene mutations were detected. Treatment included orally administered anticoagulation therapy and cobalamin supplementation. The outcome was favorable in all cases.
These reports demonstrate that pernicious anemia, on its own, can lead to hyperhomocysteinemia that is significant enough to lead to thrombosis. Understanding the molecular pathogenesis of the development of thrombosis in patients with hyperhomocysteinemia related to Biermer disease would help us to identify patients at risk and to treat them accordingly. The literature concerning the relationship between homocysteine and venous thrombosis is briefly reviewed.
高同型半胱氨酸血症被怀疑易引发血栓形成。多项病例对照研究甚至一项荟萃分析均证实了静脉血栓形成与高同型半胱氨酸血症之间存在关联。在大多数情况下，同型半胱氨酸是由遗传和后天因素（叶酸和维生素B12饮食不佳、年龄较大、肾功能损害、甲状腺疾病及恶性肿瘤）导致维生素B9或B12摄入及浓度异常引起的。
我们报告了4例摩洛哥患者的病例，这些患者出现了不同部位的急性静脉血栓形成：一名34岁男性、一名60岁男性、一名58岁男性和一名47岁女性。所有患者钴胺素水平较低，伴有显著的高同型半胱氨酸血症，血清和红细胞叶酸水平正常。静脉血栓形成在所有患者中均提示恶性贫血。他们较低的钴胺素水平、萎缩性胃炎以及胃壁细胞抗体检测呈阳性，均证实了恶性贫血的诊断。没有证据表明存在制动、近期手术、恶性肿瘤、抗磷脂抗体、骨髓增殖性疾病或激素替代治疗。未检测到蛋白C和蛋白S缺乏；他们的抗凝血酶III功能和因子V Leiden正常；未检测到凝血酶原基因突变。治疗包括口服抗凝治疗和补充钴胺素。所有病例的预后均良好。
这些报告表明，单纯的恶性贫血可导致足以引发血栓形成的高同型半胱氨酸血症。了解与恶性贫血相关的高同型半胱氨酸血症患者血栓形成发展的分子发病机制，将有助于我们识别高危患者并进行相应治疗。本文简要回顾了同型半胱氨酸与静脉血栓形成之间关系的相关文献。
