Chinese Budd-Chiari Syndrome Patients Research Articles

SAT-035 - Step-wise strategy for Chinese Budd-Chiari syndrome patients: Long-term outcome of a large scaleprospective observational cohort

SAT-035 - Step-wise strategy for Chinese Budd-Chiari syndrome patients: Long-term outcome of a large scaleprospective observational cohort

Review article: the aetiology of primary Budd-Chiari syndrome - differences between the West and China.

China may have the largest number of Budd-Chiari syndrome (BCS) cases in the world (at least 1914 original papers were published, and at least 20 191 BCS patients were reported). Considering the discrepancy in the clinical profiles and preferred treatment selection of primary BCS between the West and China, understanding its aetiology in these two different regions is very important. To review the data from large cohort studies and meta-analyses to illustrate the epidemiology of risk factors for BCS in the West and China. Relevant papers were identified by major English- and Chinese-language databases, conference abstracts, and by manual search. Risk factors reviewed include myeloproliferative neoplasms (MPNs) and their related gene mutations, anti-phospholipid syndrome, paroxysmal nocturnal haemoglobinuria (PNH), hyperhomocysteinaemia and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T mutation, factor V Leiden (FVL) and prothrombin G20210A mutations, inherited anti-thrombin, protein C and protein S deficiencies, pregnancy and puerperium, poverty, and family history. We examined the differences in the aetiological distribution of BCS between the West and China. Several recommendations should be considered in Chinese BCS patients: (i) screening for hyperhomocysteinaemia and MTHFR mutation should be regularly performed; (ii) screening for MPNs, PNH, and anti-phospholipid syndrome should be selectively performed; (iii) inherited anti-thrombin, protein C, and protein S deficiencies should be actively explored; (iv) screening for FVL and prothrombin G20210A mutations may be unnecessary; and (v) the clinical significance of pregnancy and puerperium, poverty with bacterial infections and unsanitary environments, and family history as possible risk factors should never be neglected.

Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China.

Myeloproliferative neoplasms (MPNs) are the leading cause of Budd-Chiari syndrome (BCS), and the C allele of JAK2 rs4495487 was reported to be an additional candidate locus that contributed to MPNs. In the present study, we examined the role of JAK2 rs4495487 in the etiology and clinical presentation of Chinese BCS patients. 300 primary BCS patients and 311 healthy controls were enrolled to evaluate the association between JAK2 rs4495487 polymorphism and risk of BCS. All subjects were detected for JAK2 rs4495487 by real-time PCR. Results. The JAK2 rs4495487 polymorphism was associated with JAK2 V617F-positive BCS patients compared with controls (P < 0.01). The CC genotype increased the risk of BCS in patients with JAK2 V617F mutation compared with individuals presenting TT genotype (OR = 13.60, 95% CI = 2.04–90.79) and non-CC genotype (OR = 12.00, 95% CI = 2.07–69.52). We also observed a significantly elevated risk of combined-type BCS associated with CC genotype in the recessive model (OR = 4.44, 95% CI = 1.31–15.12). This study provides statistical evidence that the JAK2 rs4495487 polymorphism is susceptibility factor JAK2 V617F positive BCS and combined BCS in China. Further larger studies are required to confirm these findings.

Prevalence of thrombotic risk factors in Chinese Budd–Chiari syndrome patients

Thrombotic risk factors, such as myeloproliferative neoplasms, factor V Leiden mutation, prothrombin G20210A mutation, paroxysmal nocturnal hemoglobinuria, etc., are common in western patients with Budd–Chiari syndrome (BCS) [1,2]. However, recent observational studies have shown that these risk factors are rarely observed in Chinese BCS patients [3–5]. More recently, this discrepancy has been further confirmed by other studies [6,7]. However, considering that the current evidence is limited, a prospective study has been carried out to further validate these previous findings. Between 1 January 2012 and 30 June 2012, a total of 26 consecutive patients who were diagnosed with BCS and first admitted to our department were eligible for this study. However, one patient with concomitant hepatocellular carcinoma was excluded. Thus, 25 patients were finally included. According to the location of occlusion, BCS was classified as pure hepatic vein occlusion (n = 4), pure inferior vena cava occlusion (n = 0), and combined occlusion of hepatic vein and inferior vena cava (n = 21). Demographic data (male: 14; female: 11; mean±SD of age: 35.7±13.2) and laboratory tests are shown in Supplementary Table 1. The results of thrombotic risk factors are presented in Table 1. The JAK2 V617F mutation, the JAK2 exon 12 mutation, and the MPL W515 L/K mutation were negative in all patients. Neither factor II G20210A mutation nor the factor V Leiden mutation was found in any patient. One patient was diagnosed with paroxysmal nocturnal hemoglobinuria because of both CD55 and CD59 deficiencies on granulocytes. Serum erythropoietin level below the reference range was not found in any patients. The heterozygous and the homozygous MTHFR mutation were found in 14 and four patients, respectively. Anticardiolipin IgG antibodies were negative in all patients.

Transjugular intrahepatic portosystemic shunt for Budd–Chiari syndrome: techniques, indications and results on 51 Chinese patients from a single centre

In Western countries, transjugular intrahepatic portosytemic shunt (TIPS) is widely applied for the treatment of Budd-Chiari syndrome (BCS). However, the outcome of Chinese BCS patients treated with TIPS is extremely limited. Furthermore, the timing of conversion from percutaneous recanalization to TIPS remains uncertain. All consecutive BCS patients treated with TIPS between December 2004 and June 2012 were included. Patients were classified as the early and converted TIPS groups. Indications, TIPS-related complications, post-TIPS hepatic encephalopathy, shunt dysfunction and death were reported. Of 51 patients included, 39 underwent percutaneous recanalization for 1024 days (0-4574) before TIPS. Early TIPS group (n = 19) has a shorter history of BCS and a lower proportion of prior percutaneous recanalization than converted TIPS group (n = 32). Main indications were diffuse obstruction of three HVs (n = 12), liver failure (n = 2), liver function deterioration (n = 8), refractory ascites (n = 10) and variceal bleeding (n = 19). Procedure-related intraperitoneal bleeding was reversible in three patients. The cumulative 1-year rate of being free of first episode of post-TIPS hepatic encephalopathy and shunt dysfunction was 78.38 and 61.69% respectively. The cumulative 1-, 2-, and 3-year survival rates were 83.82, 81.20 and 76.93% respectively. BCS-TIPS score, but not Child-Pugh, MELD, Clichy or Rotterdam score, could predict the survival. Age, total bilirubin and inferior vena cava thrombosis were also significantly associated with overall survival. Survival was similar between early and converted TIPS groups. TIPS can achieve an excellent survival in Chinese patients in whom percutaneous recanalization is ineffective or inappropriate. BCS-TIPS score could effectively predict these patients' survival.

Study on clinical features and etiology of primary Budd-Chiari Syndrome

To prospectively study clinical features and etiology in patients with incident Budd-Chiari syndrome (BCS) in China. Taking consecutive case series of patients with incident BCS as who were diagnosed in our hospital, enrolled from September 2010 to January 2012 as the object of research, and the follow-up was lasting until June 2012. Taking records for all patients' symptoms, signs, laboratory findings, radiology findings, treatment, interventional treatment survival and symptom-free period. There are total 149 incident cases of BCS. In which, the median age was 46 years old (range 10 to 82); 61.7% of them were male patients, 38.3% were female patients; 85.9% of them were chronic, the other patients (14.1%) were diagnosed during acute or subacute periods; the median duration of symptoms before diagnosis was 96 months (range 1 day to 360 months). In terms of causes, 30.9% of the patients caused by hepatic venous block, 5.4% of them resulted from inferior vena cava block, and the rest 63.8% were suffered from combined hepatic venous and inferior vena cava block. 80.5% patients have at least one etiological factor, Furthermore, the most common cause was the web (61.1%), only 4.8% have myeloproliferative diseases (JAK2 V617F mutation), and none Factor V Leiden mutation cases was found. 144 patients were treated by percutaneous transluminal angioplasty, the technical success rate was 95.1%, and took oral anticoagulation therapy for 12 months. At 18 months, The survival rate and the symptom-free survival rate after percutaneous transluminal angioplasty were 97.8% and respectively. Web is the most prevalent etiological factor for BCS in China. It is different in western countries; the common reasons of BCS are risk factors related to thrombosis, such as myeloproliferative disease and Factor V Leiden mutation, etc., which are seldom found in Chinese BCS patients. In China, most chronic BCS patients were treated with percutaneous transluminal angioplasty and have excellent clinical outcome.

Prevalence of hepatocellular carcinoma in Chinese Budd–Chiari syndrome patients

Department of Liver Diseases and Digestive Interventional Radiology, Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi’an, China Weirong Ren and Xingshun Qi contributed equally to the writing of this article. Correspondence to Guohong Han, MD, Department of Liver Diseases and Digestive Interventional Radiology, Xijing Hospital of Digestive Diseases, Fourth Military Medical University, No. 15 West Changle Road, Xi’an 710032, China Tel: +86 29 84771537; fax: +86 29 82539041; e-mail: [email protected] Received March 5, 2013 Accepted March 7, 2013

Familial Budd-Chiari Syndrome in China: A Systematic Review of the Literature.

Familial occurrence of Budd-Chiari syndrome (BCS) has been reported in scattered cases, which potentially favors the congenital theory. A review of the literature was conducted to demonstrate this phenomenon in China. PubMed, VIP, and CNKI databases were searched for studies describing at least two Chinese BCS patients from the same one family. In the 18 eligible papers, 30 siblings or first-degree relatives from 14 families were diagnosed with BCS at 9 different centers. Common clinical presentations included varices of abdominal wall and lower limbs, edema of legs, and ascites. Type and location of obstruction were similar among these patients from the same one family. Screening for BCS was conducted in 65 family members from 3 families, demonstrating that 2 asymptomatic siblings from one family were further diagnosed with BCS. Factor V Leiden mutation was found in 3 of 4 patients from one family and in one of 2 patients from another one family. Prothrombin G20210A gene mutation was found in none of the 4 patients from the 2 families. In conclusion, our study showed the possibility of familial aggregation in Chinese BCS patients, but these available data cannot support the previous hypothesis that familial BCS originates from congenital vascular malformation.

Thrombotic risk factors in Chinese Budd-Chiari syndrome patients

In Western countries, thrombotic risk factors for Budd-Chiari syndrome (BCS) are very common, including factor V Leiden mutation, prothrombin G20210A mutation, myeloproliferative neoplasms, paroxysmal nocturnal haemoglobinuria, etc. However, the data regarding thrombotic risk factors in Chinese BCS patients are extremely limited. An observational study was conducted to examine this issue. A total of 246 BCS patients who were consecutively admitted to our department between July 1999 and December 2011 were invited to be examined for thrombotic risk factors. Of these, 169 patients were enrolled. Neither factor V Leiden mutation nor prothrombin G20210A mutation was found in any of 136 patients tested. JAK2 V617F mutation was positive in four of 169 patients tested. Neither MPL W515L/K mutation nor JAK2 exon 12 mutation was found in any of 135 patients tested. Overt myeloproliferative neoplasms were diagnosed in five patients (polycythemia vera, n=3; essential thrombocythemia, n=1; idiopathic myelofibrosis, n=1). Two of them had positive JAK2 V617F mutation. Both CD55 and CD59 deficiencies were found in one of 166 patients tested. This patient had a previous history of paroxysmal nocturnal haemo-globinuria before BCS. Anticardiolipin IgG antibodies were positive or weakly positive in six of 166 patients tested. Hyperhomocysteinaemia was found in 64 of 128 patients tested. 5,10-methylenetetrahydrofolate reductase C677T mutation was found in 96 of 135 patients tested. In conclusion, factor V Leiden mutation, prothrombin G20210A mutation, myeloproliferative neoplasms, and paroxysmal nocturnal haemoglobinuria are very rare in Chinese BCS patients, suggesting that the etiological distribution of BCS might be different between Western countries and China.