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OC-15 Videocapsule endoscopy in patients with portal hypertension: small bowel findings before and following transgiugular intrahepatic portosystemic shunt
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Abstracts of the A.I.S.F. Annual Meeting 2012 / Digestive and Liver Disease 44S (2012), S1–S48
with nucleoside analogue Lamivudine experiencing a fast viral response. No one experienced liver-related death. Conclusions: Our data report a prevalence of HBV occult reactivation of 5.37%. This event occurred in 50% of cases in patients treated with no monoclonal antibodies. Every reactivation was successfully treated with Lamivudine. This report enlighten the importance of a strict surveillance in HBcAb positive HBsAg negative patients, in order to early detect an occult HBV reactivation also in NHL patients treated with monoclonal antibodies-free protocols.
OC-15 Videocapsule endoscopy in patients with portal hypertension: small bowel findings before and following transgiugular intrahepatic portosystemic shunt I. Pentassuglio 1 , M. Cesarini 2 , L. Ridola 1 , M. Merli 1 , P. Vernia 2 , O. Riggio 1 GI Unit, 1 Clinical Medicine, 2 Clinical Sciences, Rome, Italy Background and Aims: The response of small bowel lesions in patients with portal hypertension (PH), namely, portal hypertensive enteropathy (PHE) to transjugular intrahepatic portosystemic shunts (TIPS) is not known. The aims of this study were to compare small bowel abnormalities detectable by capsule endoscopy in patients with and without PH and to evaluate the effects of TIPS on small bowel findings before and one month after the shunt’s placement. Material and Methods: Sixty-one consecutive patients were enrolled in the present prospective study and submitted to capsule endoscopy (CE). Twentyone patients were affected by PH (cirrhosis in 18 pats. and portal cavernoma in 3 pts.). Forty patients without PH submitted to CE for obscure gastrointestinal bleeding served as controls. CE was repeated in 11 patients with PH one month after TIPS. Results: Mucosal inflammatory like abnormalities (edema in 18 patients and erythema in 1) were detected in 91% of the patients with PH and in 15% of the control (edema in 3 and erythema in 3) (p=0.00001). Among the vascular lesions, cherry red spot were significantly more frequent in the patients with PH than in controls (71% vs 28%; p=0.001) and small bowel varices were present in the PH group only. In the 11 patients with PH submitted to TIPS the prevalence of mucosal inflammatory like abnormalities was reduced from 91% to 36% (p=0.003) and that of vascular lesion from 73% to 9% (p=0.01). In particular edema was present in 9 patients before TIPS and in 4 after, cherry red spots were present in 6 patients before TIPS and only in 1 after and small bowel varices disappeared after TIPS. Conclusions: Both mucosal like and vascular abnormalities are frequent in patients with PH. Edema and cherry red spots decreases after the reduction of portal pressure induced by TIPS and thus, may be considered proper sings of the PHE.
OC-16 Low efficacy of current nucleic acid testing (NAT) assay for the identification of occult HBV infection (OBI) and consequences for safety of blood supply in Italy M. Spreafico 1 , B. Foglieni 1 , A. Berzuini 1 , L. Raffaele 1 , I. Guarnori 1 , A. Colli 2 , D. Prati 1 1 Department
of Transfusion Medicine and Haematology; 2 Department of Internal Medicine, Alessandro Manzoni Hospital, Lecco, Italy Background: OBI can be transmitted by blood, and therefore HBV-DNA or anti-HBc are added to HBsAg screening of donations to prevent posttransfusion hepatitis. In Italy and other countries with high anti-HBc prevalence, HBV-DNA is adopted, to avoid the exclusion of high numbers of blood donations. This is considered safe, as there is no current evidence that HBV infection can be transmitted in the absence of detectable HBV-DNA. However, we recently observed a case of acute hepatitis B following transfusion of a red cell unit from a NAT negative donor who was later found to be an OBI carrier. Taking advantage from the availability of a large donor/recipient biorepository developed at our Centre under a EU grant, we conducted a retrospective analysis of stored NAT negative samples from all the OBI carriers identified
since the implementation of the current HBV-DNA screening assay, as well as a look-back of blood recipients. Methods: Back-up samples testing negative by NAT minipool at previous donations were individually (ID) tested by more sensitive assays (Roche Individual NAT, and quantitative home-made real-time PCR designed on HBV-DNA S-region). When available, pre and post-transfusion samples from recipients of OBI carriers were tested for HBV markers. Sequence analysis was used to document donor to patient HBV transmissions. Results: 28 back-up samples (1-3 per patient) from 13 OBI carriers were available. Overall, 62% tested positive with at least one of the two assays. Of them, 42% were positive by Individual NAT, and 58% by home-made protocol. Five of these donors gave at least one unit to 4 recipients for whom both pre-transfusion and post-transfusion samples were available. One of them was infected, as indicated by seronversion and ALT elevation after blood transfusion. Conclusions: Two transfusion-transmission HBV infection were found from anti-HBc positive donors who were HBV-DNA negative by current NAT assay performed in minipool, giving concern about the safety of blood supply. The efficacy of the NAT assay needs to be improved, maybe by the individual screening of each donation.
OC-17 The A736V TMPRSS6 polymorphism is associated with the penetrance of hereditary hemochromatosis and hepatocellular carcinoma in C282Y+/+ patients L. Valenti, A.L. Fracanzani, R. Rametta, M. Fraquelli, G. Soverini, S. Pelusi, P. Dongiovanni, D. Conte, S. Fargion Department of Internal Medicine, Università degli Studi, Fondazione Ca’ IRCCS Maggiore Policlinico, Milano. Background & Aims: Hereditary hemochromatosis (HHC) is most frequently caused by homozygosity for the C282Y HFE mutation (C282Y+/+), hampering hepcidin upregulation in response to increased iron stores. The penetrance and expression of HHC is highly variable: male gender is the major predictor of iron overload and clinical complications, among which hepatocellular carcinoma (HCC) is the most feared, but other genetic factors are likely involved. As the rs855791 polymorphism, encoding for the p.A736V variant of TMPRSS6 regulating hepcidin expression in response to iron, has been recognized as a determinant of iron status in the general population, aim of this study was to assess the effect of this genetic variant on penetrance and clinical expression of HHC. Methods: We considered 331 consecutive patients with phenotypicallyexpressed HHC, 173 C282Y+/+, 158 with other HFE genotypes, and 271 healthy controls with normal iron parameters, all from Northern Italy. The rs855791 polymorphism was assessed by a sequence allele specific PCR. Results: The frequency distribution of p.A736V was significantly different between patients (42% AA, 49% AV, 9% VV) and controls (32% AA, 51% AV, 17% VV), due to under-representation of the p.736V allele determining higher hepcidin release in HHC (p=0.004). The difference was significant both in C282Y+/+ and other patients (p=0.02 for both). The 736VV genotype protected from HHC independently of age and sex (OR of HHC for 736AA: 2.2, 1.3-4 and for AV: 1.8, 1.1-3.1). Importantly, there was a significant interaction between TMPRSS6 genotype and gender in determining HHC risk, as the p.736V allele was particularly protective in females (p=0.02). Although the p.A736V variant was not associated with the severity of iron overload in HHC, in C282Y+/+ patients without chronic viral hepatitis and alcohol abuse (n=137), the p.736V high hepcidin allele protected from HCC (cumulative incidence, overall 9% AA, 2% AV, 0 VV, p=0.03, males only: 17% AA, 4% AV, 0 VV, p=0.01), possibly by influencing iron compartmentalization. Conclusions: The A736V TMPRSS6 polymorphism influences the penetrance of HHC in females and HCC risk in affected patients.
Abstracts of the A.I.S.F. Annual Meeting 2012 / Digestive and Liver Disease 44S (2012), S1–S48
with nucleoside analogue Lamivudine experiencing a fast viral response. No one experienced liver-related death. Conclusions: Our data report a prevalence of HBV occult reactivation of 5.37%. This event occurred in 50% of cases in patients treated with no monoclonal antibodies. Every reactivation was successfully treated with Lamivudine. This report enlighten the importance of a strict surveillance in HBcAb positive HBsAg negative patients, in order to early detect an occult HBV reactivation also in NHL patients treated with monoclonal antibodies-free protocols.
OC-15 Videocapsule endoscopy in patients with portal hypertension: small bowel findings before and following transgiugular intrahepatic portosystemic shunt I. Pentassuglio 1 , M. Cesarini 2 , L. Ridola 1 , M. Merli 1 , P. Vernia 2 , O. Riggio 1 GI Unit, 1 Clinical Medicine, 2 Clinical Sciences, Rome, Italy Background and Aims: The response of small bowel lesions in patients with portal hypertension (PH), namely, portal hypertensive enteropathy (PHE) to transjugular intrahepatic portosystemic shunts (TIPS) is not known. The aims of this study were to compare small bowel abnormalities detectable by capsule endoscopy in patients with and without PH and to evaluate the effects of TIPS on small bowel findings before and one month after the shunt’s placement. Material and Methods: Sixty-one consecutive patients were enrolled in the present prospective study and submitted to capsule endoscopy (CE). Twentyone patients were affected by PH (cirrhosis in 18 pats. and portal cavernoma in 3 pts.). Forty patients without PH submitted to CE for obscure gastrointestinal bleeding served as controls. CE was repeated in 11 patients with PH one month after TIPS. Results: Mucosal inflammatory like abnormalities (edema in 18 patients and erythema in 1) were detected in 91% of the patients with PH and in 15% of the control (edema in 3 and erythema in 3) (p=0.00001). Among the vascular lesions, cherry red spot were significantly more frequent in the patients with PH than in controls (71% vs 28%; p=0.001) and small bowel varices were present in the PH group only. In the 11 patients with PH submitted to TIPS the prevalence of mucosal inflammatory like abnormalities was reduced from 91% to 36% (p=0.003) and that of vascular lesion from 73% to 9% (p=0.01). In particular edema was present in 9 patients before TIPS and in 4 after, cherry red spots were present in 6 patients before TIPS and only in 1 after and small bowel varices disappeared after TIPS. Conclusions: Both mucosal like and vascular abnormalities are frequent in patients with PH. Edema and cherry red spots decreases after the reduction of portal pressure induced by TIPS and thus, may be considered proper sings of the PHE.
OC-16 Low efficacy of current nucleic acid testing (NAT) assay for the identification of occult HBV infection (OBI) and consequences for safety of blood supply in Italy M. Spreafico 1 , B. Foglieni 1 , A. Berzuini 1 , L. Raffaele 1 , I. Guarnori 1 , A. Colli 2 , D. Prati 1 1 Department
of Transfusion Medicine and Haematology; 2 Department of Internal Medicine, Alessandro Manzoni Hospital, Lecco, Italy Background: OBI can be transmitted by blood, and therefore HBV-DNA or anti-HBc are added to HBsAg screening of donations to prevent posttransfusion hepatitis. In Italy and other countries with high anti-HBc prevalence, HBV-DNA is adopted, to avoid the exclusion of high numbers of blood donations. This is considered safe, as there is no current evidence that HBV infection can be transmitted in the absence of detectable HBV-DNA. However, we recently observed a case of acute hepatitis B following transfusion of a red cell unit from a NAT negative donor who was later found to be an OBI carrier. Taking advantage from the availability of a large donor/recipient biorepository developed at our Centre under a EU grant, we conducted a retrospective analysis of stored NAT negative samples from all the OBI carriers identified
since the implementation of the current HBV-DNA screening assay, as well as a look-back of blood recipients. Methods: Back-up samples testing negative by NAT minipool at previous donations were individually (ID) tested by more sensitive assays (Roche Individual NAT, and quantitative home-made real-time PCR designed on HBV-DNA S-region). When available, pre and post-transfusion samples from recipients of OBI carriers were tested for HBV markers. Sequence analysis was used to document donor to patient HBV transmissions. Results: 28 back-up samples (1-3 per patient) from 13 OBI carriers were available. Overall, 62% tested positive with at least one of the two assays. Of them, 42% were positive by Individual NAT, and 58% by home-made protocol. Five of these donors gave at least one unit to 4 recipients for whom both pre-transfusion and post-transfusion samples were available. One of them was infected, as indicated by seronversion and ALT elevation after blood transfusion. Conclusions: Two transfusion-transmission HBV infection were found from anti-HBc positive donors who were HBV-DNA negative by current NAT assay performed in minipool, giving concern about the safety of blood supply. The efficacy of the NAT assay needs to be improved, maybe by the individual screening of each donation.
OC-17 The A736V TMPRSS6 polymorphism is associated with the penetrance of hereditary hemochromatosis and hepatocellular carcinoma in C282Y+/+ patients L. Valenti, A.L. Fracanzani, R. Rametta, M. Fraquelli, G. Soverini, S. Pelusi, P. Dongiovanni, D. Conte, S. Fargion Department of Internal Medicine, Università degli Studi, Fondazione Ca’ IRCCS Maggiore Policlinico, Milano. Background & Aims: Hereditary hemochromatosis (HHC) is most frequently caused by homozygosity for the C282Y HFE mutation (C282Y+/+), hampering hepcidin upregulation in response to increased iron stores. The penetrance and expression of HHC is highly variable: male gender is the major predictor of iron overload and clinical complications, among which hepatocellular carcinoma (HCC) is the most feared, but other genetic factors are likely involved. As the rs855791 polymorphism, encoding for the p.A736V variant of TMPRSS6 regulating hepcidin expression in response to iron, has been recognized as a determinant of iron status in the general population, aim of this study was to assess the effect of this genetic variant on penetrance and clinical expression of HHC. Methods: We considered 331 consecutive patients with phenotypicallyexpressed HHC, 173 C282Y+/+, 158 with other HFE genotypes, and 271 healthy controls with normal iron parameters, all from Northern Italy. The rs855791 polymorphism was assessed by a sequence allele specific PCR. Results: The frequency distribution of p.A736V was significantly different between patients (42% AA, 49% AV, 9% VV) and controls (32% AA, 51% AV, 17% VV), due to under-representation of the p.736V allele determining higher hepcidin release in HHC (p=0.004). The difference was significant both in C282Y+/+ and other patients (p=0.02 for both). The 736VV genotype protected from HHC independently of age and sex (OR of HHC for 736AA: 2.2, 1.3-4 and for AV: 1.8, 1.1-3.1). Importantly, there was a significant interaction between TMPRSS6 genotype and gender in determining HHC risk, as the p.736V allele was particularly protective in females (p=0.02). Although the p.A736V variant was not associated with the severity of iron overload in HHC, in C282Y+/+ patients without chronic viral hepatitis and alcohol abuse (n=137), the p.736V high hepcidin allele protected from HCC (cumulative incidence, overall 9% AA, 2% AV, 0 VV, p=0.03, males only: 17% AA, 4% AV, 0 VV, p=0.01), possibly by influencing iron compartmentalization. Conclusions: The A736V TMPRSS6 polymorphism influences the penetrance of HHC in females and HCC risk in affected patients.