Gonadal dysfunction in male patients with Budd Chiari syndrome and its reversibility with treatment.

BACKGROUND AND AIMS: Budd Chiari syndrome (BCS) commonly affects adolescents and adults. With improved survival, important quality-of-life parameters such as sexual life and fertility become more relevant. This study was aimed to assess the gonadal function in male patients with BCS and the effect of treatment on gonadal function. METHODS: Thirty male patients with newly diagnosed BCS were prospectively assessed for the presence of gonadal dysfunction. Erectile function was assessed using standardized International Index of Erectile Function questionnaire (IIEF). Follicular stimulating hormone (FSH), luteinizing hormone (LH), sex hormone-binding globulin (SHBG), estradiol, total testosterone (TT), calculated free testosterone (cFT), calculated bioavailable testosterone (cBT), sperm count, and sperm motility were compared at baseline and at 6 months of treatment for the assessment of gonadal function. RESULTS: Sixteen (53.3%) out of 30 patients were sexually active at the time of study and 5/16 (31%) had erectile dysfunction. Hypogonadotropic hypogonadism (HH) was the most common pattern seen in 50% cases followed by hypergonadotropic hypogonadism (HyH) in 23% cases. 27% patients had eugonadism. At 6 months of treatment, 60% of patients in HH group became eugonadal as compared to only 14% in HyH group. Proportion of patients with erectile dysfunction reduced (5/16 vs 1/16) after 6 months of therapy. The improvement in sperm count and sperm motility was not significant. CONCLUSION: Gonadal dysfunction is common in male patients with BCS. HH remains the most common type of hypogonadism BCS and the type which improves significantly after treatment.

Mutations in CYP2C9 and/or VKORC1 haplotype are associated with higher bleeding complications in patients with Budd-Chiari syndrome on warfarin.

INTRODUCTION: Anticoagulation is universally recommended in Budd-Chiari syndrome [BCS]. Vitamin K epoxide reductase complex 1 (VKORC1) and CYP2C9 are involved in the metabolism of warfarin. The present study was done to assess whether these mutations are associated with the risk of bleeding in patients with BCS receiving warfarin. PATIENTS AND METHODS: Patients diagnosed with BCS underwent genotyping for three single nucleotide polymorphisms [SNPs]-two for the CYP2C9 and one for the VKORC1 haplotype. The patients were followed up for at least 12 months and all bleeding episodes were recorded. Patients with and without mutations were compared for bleeding complications and a crude odds ratio [crude OR] was derived for the association between bleeding and presence or absence of mutant alleles. RESULTS: Eighty patients [mean (SD) age 27.47 (8.93) years, 35 male] with BCS underwent genetic testing. 37/80 (46.2%) patients had mutation of CYP2C9 and/or VKORC1; 22/80 (27.5%) had either of the mutant alleles of CYP2C9 and, similarly, 22/80 (27.5%) had the VKORC mutation. Over a median follow-up of 20 (range 12-96) months, 21/80 (26.3%) patients had bleeding complications. Patients with mutant SNPs had a higher risk of bleeding than those without [14/37 vs. 7/43, p = 0.04, crude OR (95% CI) 3.13 (1.1-8.9)]. CONCLUSION: The presence of mutations in VKORC1 or CYP2C9 is associated with increased risk of bleeding in patients with BCS on warfarin. Such patients with SNPs of CY2C9 or VKORC1 haplotype should be monitored intensively while receiving warfarin.

Fully covered self-expanding metallic stent placement for benign refractory esophageal strictures.

AIMS: Treatment options for benign refractory esophageal stricture are limited. We retrospectively analyzed data of 11 patients who underwent fully covered self-expanding metallic stent (FC-SEMS) placement for refractory benign esophageal stricture at our institute. METHODS: Refractory benign esophageal stricture was defined as inability to dilate a stricture to a diameter of 14 mm after a minimum of five sessions at 2-week intervals or inability to maintain diameter of 14 mm for at least 4 weeks. Eleven patients with refractory benign esophageal stricture (corrosive-6, peptic-3, and post-sclerotherapy-2) underwent FC-SEMS placement. The stent was removed after 4-6 weeks as per manufacturer's recommendation. Patients were followed up for 1 year. RESULTS: Three patients with peptic strictures [length of stricture 2, 3, and 3 cm] and two patients with post-sclerotherapy stricture [length 2 and 1.5 cm] had complete response. Two of 6 patients with corrosive stricture (10 cm, 12 cm) developed recurrence of symptoms within 1 month of stent removal, and two after 2 months (8 cm, 3 cm). One patient with corrosive stricture (6 cm) had recurrence after 6 months, and responded to single session of dilatation. One patient with corrosive stricture was asymptomatic for last 12 months. Four stents were migrated. Four patients developed severe retrosternal pain following stent placement, which was managed with analgesics. There were no serious adverse events after placement of stent and removal of stent. CONCLUSIONS: Fully covered SEMS is safe and effective for refractory benign non-corrosive esophageal strictures.

Recanalization of TIPSS via transsplenic puncture.

Transjugular intrahepatic portosystemic shunt (TIPSS) has important role in the management of Budd-Chiari syndrome (BCS). Stent dysfunction rate up to 80% at 2 years limits the use of TIPSS. Reintervention is required if shunt develops occlusion or stenosis. Different techniques have been reported for the catheterization of TIPSS in cases of an occluded stent. In those failing a standard transvenous approach, the Colapinto needle technique, a combined transvenous transhepatic approach or transplenic approaches have been described. Here, we report our experience in a challenging TIPSS recanalization using a transsplenic approach.