De Stefano V, Teofili L, Leone G, Michiels J J
Department of Hematology, Catholic University Sacred Heart, Rome, Italy.
Semin Thromb Hemost. 1997;23(5):411-8. doi: 10.1055/s-2007-996117.
Budd-Chiari syndrome is a severe disease characterized by occlusion of large hepatic veins leading to death if untreated. Using the classical criteria for the diagnosis of polycythemia vera (PV), essential thrombocythemia (ET), and idiopathic myelofibrosis (IMF), overt PV was the underlying cause in about 10% of the cases and ET or IMF in only a very few. Using spontaneous endogenous erythroid colony (EEC) formation in vitro and/or bone marrow biopsies, a primary myeloproliferative disorder (PMD) was present in 78% of the patients with apparently idiopathic Budd-Chiari syndrome and in about half of the patients with portal, splenic, and/or mesenteric vein thrombosis. The diagnoses in 40 reported cases with hepatic vein thrombosis and spontaneous EEC were overt PV in 25 and latent unclassified PMD in 15 patients. The diagnoses of 40 reported cases with splanchnic vein thrombosis and spontaneous EEC were overt PV in 12, ET in 2, IMF in 2, and latent unclassified PMD with the presence of EEC in 24 patients. Thrombocytosis as a manifestation of myeloproliferative disease was recorded in 34 of 80 (42.5%) patients with spontaneous EEC and Budd-Chiari syndrome or portal vein thrombosis. Thrombocythemia was present in 15 of 41 patients with a proven and in 19 of 39 patients with a latent myeloproliferative disorder. Patients with hepatic vein or splanchnic vein thrombosis associated with a PMD are predominantly females younger than 45. It is concluded that both spontaneous EEC and histopathology from bone marrow biopsy provide specific information as sensitive clues to the diagnosis of all variants of overt and latent myeloproliferative disorders. The association of hepatic and splanchnic vein thrombosis and PMD is not fully understood. Therapeutic options of Budd-Chiari syndrome include anticoagulation with heparin, fibrinolysis followed by oral anticoagulation, and appropriate treatment of the underlying PMD. In case of failure, invasive options include local procedures such as angioplasty or stenting, venous decompression by portal-systemic shunts, or liver transplantation.
布加综合征是一种严重疾病，其特征为大肝静脉闭塞，若不治疗可导致死亡。采用真性红细胞增多症（PV）、原发性血小板增多症（ET）和原发性骨髓纤维化（IMF）的经典诊断标准，约10%的病例潜在病因是显性PV，只有极少数病例的潜在病因是ET或IMF。通过体外自发内源性红系集落（EEC）形成和/或骨髓活检发现，78%的明显特发性布加综合征患者以及约一半的门静脉、脾静脉和/或肠系膜静脉血栓形成患者存在原发性骨髓增殖性疾病（PMD）。40例报告的肝静脉血栓形成并伴有自发EEC的病例中，25例诊断为显性PV，15例诊断为隐匿性未分类PMD。40例报告的内脏静脉血栓形成并伴有自发EEC的病例中，12例诊断为显性PV，2例诊断为ET，2例诊断为IMF，24例诊断为伴有EEC的隐匿性未分类PMD。80例伴有自发EEC和布加综合征或门静脉血栓形成的患者中，34例（42.5%）记录有作为骨髓增殖性疾病表现的血小板增多症。41例确诊为骨髓增殖性疾病的患者中有15例存在血小板增多症，39例隐匿性骨髓增殖性疾病患者中有19例存在血小板增多症。与PMD相关的肝静脉或内脏静脉血栓形成患者主要为45岁以下的女性。结论是，自发EEC和骨髓活检组织病理学均为显性和隐匿性骨髓增殖性疾病所有变体的诊断提供了特定信息，作为敏感线索。肝静脉和内脏静脉血栓形成与PMD之间的关联尚未完全明确。布加综合征的治疗选择包括肝素抗凝、纤溶后口服抗凝以及对潜在PMD进行适当治疗。若治疗失败，侵入性治疗选择包括血管成形术或支架置入等局部手术、门体分流术进行静脉减压或肝移植。
