Afredj Nawel, Guessab Nawal, Nani Abdelbasset, Faraoun Sid Ahmed, Ouled Cheikh Ibtissem, Kerbouche Rafik, Hannoun Djouhar, Amir Zine Charef, Ait Kaci Hayet, Bentabak Kamel, Plessier Aurélie, Valla Dominique-Charles, Cazals-Hatem Valerie, Denninger Marie-Hélène, Boucekkine Tadjeddine, Debzi Nabil
Nawel Afredj, Nawal Guessab, Abdelbasset Nani, Ibtissem Ouled Chikh, Rafik Kerbouche, Tadjeddine Boucekkine, Nabil Debzi, Hepatology Unit, Department of Medicine Mustapha Hospital, Algiers 16010, Algeria.
World J Hepatol. 2015 Apr 28;7(6):903-9. doi: 10.4254/wjh.v7.i6.903.
To study the clinical presentation of Budd-Chiari syndrome (BCS) and identify the aetiologies of this disease in Algeria.
Patients with BCS, hospitalised in our unit from January 2004 until June 2010 were included and the aetiological factors were assessed. Patients presenting a BCS in the setting of advanced-stage cirrhosis or a liver transplantation were excluded from the study. The diagnosis was established when an obstruction of hepatic venous outflow (thrombosis, stenosis or compression) was demonstrated. We diagnosed myeloproliferative disease (MPD) by bone marrow biopsy and V617F JAK2 mutation. Anti-phospholipid syndrome (APLS) was detected by the presence of anticardiolipin antibodies, anti-β2 glycoprotein antibodies and Lupus anticoagulant. We also detected paroxysmal nocturnal haemoglobinuria (PNH) by flow cytometry. Celiac disease and Behçet disease were systematically investigated in our patients. Hereditary anticoagulant protein deficiencies were also assessed. We tested our patients for the G20210A mutation at Beaujon Hospital. Imaging procedures were performed to determine a local cause of BCS, such as a hydatid cyst or a liver tumour.
One hundred and fifteen patients were included. Mean follow up: 32.12 mo. Mean age: 34.41 years, M/F = 0.64. Chronic presentation was frequent: 63.5%. The revealing symptoms for the BCS were ascites (74.8%) and abdominal pain (42.6%). The most common site of thrombosis was the hepatic veins (72.2%). Involvement of the inferior vena cava alone was observed in 3 patients. According to the radiological investigations, BCS was primary in 94.7% of the cases (n = 109) and secondary in 5.2% (n = 6). An aetiology was identified in 77.4% of the patients (n = 89); it was multifactorial in 27% (n = 31). The predominant aetiology of BCS in our patients was a myeloproliferative disease, observed in 34.6% of cases. APLS was found in 21.7% and celiac disease in 11.4%. Other acquired conditions were: PNH (n = 4), systemic disease (n = 6) and inflammatory bowel disease (n = 5). Anticoagulant protein deficiency was diagnosed in 28% of the patients (n = 18), dominated by protein C deficiency (n = 13). Secondary BCS was caused by a compressing hydatic cyst (n = 5) and hepatocellular carcinoma (n = 1).
The main aetiologic factor of BCS in Algeria is MPD. The frequency of celiac disease justifies its consideration when BCS is diagnosed in our region.
研究布加综合征（BCS）的临床表现，并确定阿尔及利亚该疾病的病因。
纳入2004年1月至2010年6月在我们科室住院的BCS患者，并评估其病因。处于晚期肝硬化或肝移植背景下出现BCS的患者被排除在研究之外。当证实存在肝静脉流出道梗阻（血栓形成、狭窄或受压）时确立诊断。我们通过骨髓活检和V617F JAK2突变诊断骨髓增殖性疾病（MPD）。通过抗心磷脂抗体、抗β2糖蛋白抗体和狼疮抗凝物的存在检测抗磷脂综合征（APLS）。我们还通过流式细胞术检测阵发性夜间血红蛋白尿（PNH）。对我们的患者系统地调查了乳糜泻和白塞病。还评估了遗传性抗凝蛋白缺乏症。我们在博若医院对患者进行G20210A突变检测。进行影像学检查以确定BCS的局部病因，如包虫囊肿或肝脏肿瘤。
纳入115例患者。平均随访时间：32.12个月。平均年龄：34.41岁，男/女 = 0.64。慢性表现常见：63.5%。BCS的首发症状为腹水（74.8%）和腹痛（42.6%）。血栓形成最常见的部位是肝静脉（72.2%）。仅下腔静脉受累在3例患者中观察到。根据影像学检查，94.7%（n = 109）的病例BCS为原发性，5.2%（n = 6）为继发性。77.4%（n = 89）的患者确定了病因；27%（n = 31）为多因素病因。我们患者中BCS的主要病因是骨髓增殖性疾病，在34.6%的病例中观察到。发现APLS的占21.7%，乳糜泻占11.4%。其他获得性情况包括：PNH（n = 4）、全身性疾病（n = 6）和炎症性肠病（n = 5）。28%（n = 18）的患者诊断为抗凝蛋白缺乏，以蛋白C缺乏为主（n = 13）。继发性BCS由压迫性包虫囊肿（n = 5）和肝细胞癌（n = 1）引起。
阿尔及利亚BCS的主要病因是MPD。在我们地区诊断BCS时，乳糜泻的发生率证明了对其进行考虑的合理性。
