Piñar A, Saenz R, Rebollo J, Gomez-Parra M, Carrasco F, Herrerias J M, Jimenez-Saenz M
Department of Gastroenterology, University Hospital Virgen Macarena, Seville, Spain.
J Clin Gastroenterol. 1998 Dec;27(4):361-3. doi: 10.1097/00004836-199812000-00019.
In 30-50% of patients with portal thrombosis, no underlying etiology is found. The recent reports of new hereditary clotting defects are contributing to the understanding of this problem, but they only justify a small number of idiopathic cases. Instead, anticoagulant protein C resistance, caused by a mutation in the V factor gene, appears to be at least 10 times more common than any of the other known inherited deficiencies of anticoagulant proteins. In spite of that, extensive thrombosis of portomesenteric or hepatic venous circulation has been rarely described in this hereditary clotting defect. We report a typical case of familial and recidivant deep vein thrombosis in a young man heterozygous for the factor V Leiden mutation (Arg506-Gln), who developed an acute portal and mesenteric vein thrombosis. The patient was discharged with an oral anticoagulant treatment and remains asymptomatic 2 years later. In conclusion, the high prevalence of the factor V Leiden in young and aged patients with idiopathic vein thrombosis and the case here described makes it obligatory to consider this disorder in patients with portal and/or mesenteric vein thrombosis, especially in those without evident etiology.
在30%至50%的门静脉血栓形成患者中，未发现潜在病因。最近关于新的遗传性凝血缺陷的报道有助于理解这一问题，但它们仅能解释少数特发性病例。相反，由V因子基因突变引起的抗凝血蛋白C抵抗似乎比任何其他已知的遗传性抗凝血蛋白缺乏症至少常见10倍。尽管如此，这种遗传性凝血缺陷很少有广泛的门静脉肠系膜或肝静脉循环血栓形成的描述。我们报告了一例典型的家族性复发性深静脉血栓形成病例，患者为年轻男性，因V因子Leiden突变（Arg506-Gln）而呈杂合子状态，发生了急性门静脉和肠系膜静脉血栓形成。患者出院时接受口服抗凝治疗，两年后仍无症状。总之，V因子Leiden在特发性静脉血栓形成的年轻和老年患者中患病率很高，以及本文所述病例，使得在门静脉和/或肠系膜静脉血栓形成患者中，尤其是那些没有明显病因的患者中，必须考虑这种疾病。
