Membranous Budd-Chiari syndrome in Caucasians.

OBJECTIVE: Budd-Chiari syndrome (BCS) is characterized by an obstruction of hepatic venous outflow. Membranous obstruction of the inferior vena cava (IVC) is a curable cause of primary BCS but is very rare in Western Europe. To date, there is only very limited information on membranous BCS in the Western world. We here report the diagnosis and management of five Caucasian patients with membranous BCS. MATERIAL AND METHODS: Out of 23 patients with BCS diagnosed between 2004 and 2007 we identified five with a membranous web of the IVC. Diagnostic evaluation of BCS included laboratory tests, ultrasound Doppler imaging, CT and MRI. RESULTS: The clinical presentation of membranous BCS was heterogeneous. The time frame from first clinical symptoms to diagnosis ranged from 3 weeks to 60 years. Liver cirrhosis was misdiagnosed in 4/5 patients. CT did not establish the correct diagnosis of membranous BCS in any of our patients. In contrast, abdominal Doppler ultrasonography showed collaterals and a web in the IVC which was confirmed by Doppler-MRI and hepatovenography. Four patients underwent interventional treatment with balloon dilatation of short-segment venous stenoses or complete occlusions. Therapy was successful: in all cases it resulted in a normalized extrahepatic blood flow and reduction of spleen size. CONCLUSIONS: Membranous BCS may be underdiagnosed in Caucasians. Doppler ultrasound should be used as the initial diagnostic procedure for membranous BCS. Although CT is considered the "gold standard" in addition to angiography, it could not detect membranous obliteration in our cases. Patients can be effectively treated by interventional endovascular therapy.

Etiological spectrum of esophageal varices due to portal hypertension in Indian children: is it different from the West?

BACKGROUND AND AIM: Information about portal hypertension (PHT) in children is meagre. We therefore studied the spectrum and outcome of PHT in children (

Low frequency of factor V Leiden and prothrombin G20210A mutations in patients with hepatic venous outflow tract obstruction in northern India: a case-control study.

BACKGROUND: Factor V Leiden (FVL) and prothrombin gene (G20210A) mutations are known to be associated with venous thromboembolism. Several studies have shown an association of these mutations with hepatic venous outflow tract obstruction (HVOTO). We studied the prevalence of these mutations among patients with HVOTO in northern India in comparison with healthy population. METHODS: Genomic DNA from patients with HVOTO and healthy controls was analyzed for the presence of FVL and prothrombin gene G20210A mutations, using PCR and restriction-fragment length polymorphism. RESULTS: Fifty-nine patients with HVOTO (age 5-69 years, median 27; 39 male) and 49 unrelated healthy controls from the same geographic region were studied. Of the 59 patients, 19 had a block in the hepatic vein, 7 in inferior vena cava, and 33 had mixed block. Presentation was with acute thrombosis in 9 patients and with long-standing obstruction in 50 patients. Among 49 controls, heterozygous and homozygous FVL mutations were observed in 2 and 0 subjects, respectively, with an allele frequency of 2% (2 of 98). In comparison, among 59 patients with HVOTO, four had heterozygous and none had homozygous FVL mutation, with an allele frequency of 3.4% (p=ns versus controls). The G20210A prothrombin gene mutation was not found in any of the patients or controls. CONCLUSION: FVL and prothrombin G20210A mutations appear to have no role in the pathogenesis of HVOTO in our patients with Budd-Chiari syndrome, consisting largely of those with long-standing obstruction of the inferior vena cava.

Risk factors of recurrence among 471 Chinese patients with Budd-Chiari syndrome.

BACKGROUND AND AIM: Budd-Chiari syndrome (BCS) is a rare form of vascular disease. There is limited literature available regarding the prognosis of this disease. The aim of this study was to characterize the cumulative recurrence rates and to investigate the risk factors of recurrence in Chinese patients with BCS. METHODS: Four hundred and seventy-one patients were diagnosed as having BCS in the Affiliated Hospital of Xuzhou Medical College (Jiangsu, China) between January 2008 and December 2012. Follow-ups were conducted by phone calls or correspondence. Cumulative recurrence rates were assessed with the Kaplan-Meier curves. Independent risk factors of recurrence were calculated with the Cox's proportional hazards regression model. RESULTS: Four hundred and twenty-five patients with BCS had complete follow-up data, in which 24 patients died, 98 patients had recurrence, with the median duration of follow-up being 19.3 months (range 3 to 61.4). The cumulative 1-, 2-, 3-, 4- and 5-year recurrence rates were 12%, 22%, 27%, 35% and 42%, respectively. Univariable and multivariable Cox's proportional hazards regression models showed that the risk factors of recurrence include: age ≤ 30 years (HR=2.261, 95% CI: 1.412-3.621), differentiated typology (hepatic vein type: HR=1.885, 95% CI: 1.045-3.402; combined type: HR=2.088, 95% CI: 1.233-3.536), elevated lactate dehydrogenase (LDH) levels (HR=1.125, 95% CI: 1.101-1.212) and the Child-Pugh class B/C (B: HR=1.758, 95% CI: 1.057-2.926; C: HR=2.626, 95% CI: 1.396-4.940). CONCLUSIONS: Regardless of thrombophilia and haematological causes, exceptionally found in Chinese patients, the 5-year recurrence rate of BCS was as high as 42%. Age ≤ 30 years, hepatic vein type, combined type, increased LDH levels and the Child-Pugh class B/C were independent predictors of BCS recurrence.

Initial imaging analysis of Budd-Chiari syndrome in Henan province of China: most cases have combined inferior vena cava and hepatic veins involvement.

AIM: To evaluate the type of venous involvement in Chinese Budd-Chiari syndrome (BCS) patients and the relative diagnostic accuracy of the different imaging modalities. METHODS: Using digital subtraction angiography (DSA) as a reference standard, color Doppler ultrasound (CDUS), computed tomography angiography (CTA), and magnetic resonance angiography (MRA) were performed on 338 patients with BCS. We analyzed the course of the main and any accessory hepatic veins (HVs) and the inferior vena cava (IVC) to assess the etiology of obstructed segments and diagnostic accuracy of CDUS, CTA and MRA. RESULTS: Among the 338 cases, there were 8 cases (2.4%) of isolated IVC membranous obstruction, 45 cases (13.3%) of isolated HV occlusion, and 285 cases (84.3%) with both IVC membranous obstruction and HV occlusion. Comparing with DSA, CDUS, CTA had a diagnostic accuracy of 89.3% and 80.2% in detecting BCS, and 83.4% of cases correctly correlated by MRA. CONCLUSION: In Henan Province, most patients with BCS have complex lesions combining IVC and HV involvement. The combination of CDUS and CTA or MRI is useful for diagnosis of BCS and guiding therapy.

Thrombotic risk factors in Chinese Budd-Chiari syndrome patients. An observational study with a systematic review of the literature.

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.

Outcome of non surgical hepatic decompression procedures in Egyptian patients with Budd-Chiari.

AIM: To evaluate outcome of patients with Budd-Chiari syndrome after balloon angioplasty ± stenting or transjugular intrahepatic portosystemic shunt (TIPS). METHODS: Twenty five patients with Budd-Chiari syndrome admitted to Ain Shams University Hospitals, Tropical Medicine Department were included. Twelve patients (48%) with short segment occlusion were candidates for angioplasty; with stenting in ten cases and without stenting in two. Thirteen patients (52%) had Transjugular Intrahepatic Portosystemic Shunt. Patients were followed up for 12-32 mo. RESULTS: Patency rate in patients who underwent angioplasty ± stenting was 83.3% at one year and at end of follow up. The need of revision was 41.6% with one year survival of 100%, dropped to 91.6% at end of follow up. In patients who had Transjugular Intrahepatic Portosystemic Shunt, patency rate was 92.3% at one year, dropped to 84.6% at end of follow up. The need of revision was 38.4% with one year and end of follow up survival of 100%. Patients with patent shunts showed marked improvement compared to those with occluded shunts. CONCLUSION: Morbidity and mortality following angioplasty ± stenting and TIPS are low with satisfactory outcome. Proper patient selection and management of shunt dysfunction are crucial in improvement.

Hyperhomocysteinemia and the MTHFR C677T mutation in Budd-Chiari syndrome.

Hyperhomocysteinemia (HH) is a factor that predisposes individuals to thrombosis, and the C677T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) is known to give increased plasma homocysteine. However, little is known about their roles in Budd-Chiari syndrome (BCS). This study evaluated the roles of HH and the MTHFR C677T mutation in patients with BCS. We compared 41 BCS patients with 80 sex- and age-matched healthy controls. The mean plasma homocysteine level was significantly higher in patients with BCS (20.15 +/- 5.78 micromol/L) compared with normal controls (15.80 +/- 6.58 micromol/L), P < 0.01. HH (>19.5 micromol/L in men and >15.0 micromol/L in women) was detected in 15 (36.59%) patients and in 14 (17.5%) controls (odds ratio [OR], 2.72; 95% confidence internal [CI], 1.17-6.32). The prevalence of the mutated MTHFR 677TT genotype and the 677T allele in normal controls was 10.0% and 31.3%, respectively. The mutant 677T homozygotes and alleles were more frequent in patients with BCS than in controls (22.0% vs. 10.0%, 0.025 < P < 0.05; 45.1% vs. 31.3%, 0.025 < P < 0.05). The relative risk of BCS among the carriers of 677TT was significantly increased (OR, 3.3; 95% CI, 1.1-10.0). The mutant MTHFR heterozygous 677C/T carriers were not significantly increased in patients with BCS compared with controls (46.3% vs. < 2.5%, P > 0.05). The relative risk OR of BCS among carriers of 677C/T was 1.6 (95% CI, 0.7-3.6). This study suggests that both HH and the homozygous C677T mutation in the MTHFR gene are important risk factors of BCS.