A rare and threatening complication in a cirrhotic patient

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A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations

The low-phospholipid-associated cholelithiasis (LPAC) syndrome is a form of symptomatic cholelithiasis occurring in young adults, characterized by recurrence of symptoms after cholecystectomy and presence of hepatolithiasis. The case refers to a healthy 39-year-old Caucasian male who presented with abdominal pain and jaundice. His blood tests showed conjugated hyperbilirubinemia and elevated liver enzymes (total bilirubin 6.65 mg/dL, γ-glutamyltransferase 699 IU/L) and abdominal computed tomography revealed dilation of common bile duct and left intrahepatic ducts. Magnetic resonance cholangiopancreatography identified choledocholithiasis, retrieved by endoscopic retrograde cholangiopancreatography, after which there was a worsening of jaundice (total bilirubin 23 mg/dL), which persisted for several weeks, possibly due to ciprofloxacin toxicity. After an extensive workup including liver biopsy, the identification of two foci of hepatolithiasis on reevaluation abdominal ultrasound raised the hypothesis of LPAC syndrome and the patient was started on ursodeoxycholic acid, with remarkable improvement. Genetic testing identified the mutation c.1954A>G (p.Arg652Gly) in ABCB4 gene (homozygous) and c.1331T>C (p.Val444Ala) in ABCB11 gene (heterozygous). In conclusion, we describe the unique case of an adult male with choledocholithiasis, hepatolithiasis, and persistent conjugated hyperbilirubinemia after retrieval of stones, fulfilling the criteria for LPAC syndrome and with possible superimposed drug-induced liver injury, in whom ABCB4 and ABCB11 mutations were found, both of which had not been previously described in association with LPAC.info:eu-repo/semantics/publishedVersio

The albumin-bilirubin score predicting the mortality of patients with decompensated cirrhosis.

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Próteses metálicas auto-expansíveis na paliação da obstrução gastroduodenal maligna: a experiência de 5 anos de um serviço de gastrenterologia

Introdução e Objetivos A obstrução gastroduodenal maligna em doentes com tumores avançados causa morbilidade significativa. A colocação de próteses metálicas auto-expansíveis é um procedimento endoscópico paliativo alternativo à cirurgia, eficaz, com baixa taxa de complicações e menor morbilidade associada. O sucesso clínico pode ser avaliado pelo Gastric Outlet Obstruction Score (GOOS) e está descrito como sendo >60%. O objetivo deste trabalho foi avaliar a eficácia do procedimento, a prevalência de reestenose e a sobrevida. Material Estudo retrospetivo em doentes consecutivos com obstrução gastroduodenal maligna submetidos a colocação de prótese metálica auto-expansível não coberta entre Janeiro/2012 e Dezembro/2016. Avaliou-se o sucesso técnico e a sobrevida e considerou-se sucesso clínico se GOOS≥1. Análise estatística realizada com IBM ® SPSS ® Statistics V24. Sumário dos Resultados Incluíram-se 31 doentes, 58% do sexo masculino, com média de idade de 71±14 anos. Os tipos de tumores mais frequentes foram adenocarcinoma gástrico (52%, n=16) e pancreático (32%, n=10). As localizações mais frequentes de obstrução foram o piloro (55%, n=17) e o bulbo (26%, n=8). O sucesso técnico foi de 100%, não tendo ocorrido complicações relacionadas com o procedimento. A eficácia clínica foi 94% (GOOS≥1). 71% dos doentes tiveram score GOOS≥2, ou seja, tolerância a dieta mole ou geral. O tempo médio até ao início da dieta oral após o procedimento foi de 34,9 horas. O tempo médio de internamento foi de 20±10 dias. Em 6 doentes (19%) houve reestenose, resolvida com a colocação bem sucedida de 2ª prótese. Em nenhum desses casos houve necessidade de intervenção cirúrgica. A sobrevida média após o procedimento foi de 56± 69 dias. Conclusões Na nossa série concluímos que a colocação de prótese metálica auto-expansível é um método paliativo seguro e eficaz na obstrução gastroduodenal maligna, permitindo alimentação por via oral na maioria dos doentes (94% com score GOOS ≥1), com uma taxa de reestenose relativamente baixa e tratada endoscopicamente.N/

Is there a proximal shift in the distribution of colorectal adenomas?

INTRODUCTION: Several studies have shown a proximal shift of colorectal cancer (CRC) during the last decades. However, few have analyzed the changing distribution of adenomas over time. AIM: The aim of this study was to compare the site and the characteristics of colorectal adenomas, in a single center, during two periods. METHODS: We conducted a retrospective, observational study in a single hospital of adenomas removed during a total colonoscopy in two one-year periods: 2003 (period 1) and 2012 (period 2). Patients with inflammatory bowel disease, familial adenomatous polyposis, hereditary non-polyposis colorectal cancer syndrome, or history of CRC were excluded from the study. The χ(2) statistical test was performed. P values less than 0.05 were considered statistically significant. RESULTS: During the two considered periods, a total of 864 adenomas from 2394 complete colonoscopies were analyzed: 333 adenomas from 998 colonoscopies during period 1 and 531 adenomas from 1396 colonoscopies during period 2. There was a significant increase in the proportion of adenomatous polyps in the proximal colon from period 1 to 2 (30.6% to 38.8% (p = 0.015)). Comparing the advanced features of adenomas between the two periods, it was noted that in period 2, the number of adenomas with size ≥1 cm (p = 0.001), high-grade dysplasia (p = 0.001), and villous features (p < 0.0001) had a significant increase compared to period 1. CONCLUSION: Incidence of adenomatous polyps in the proximal colon as well as adenomas with advanced features has increased in the last years. This finding may have important implications regarding methods of CRC screening

Abordagem clínica da cirrose hepática: protocolos de atuação

Coordenação de: Alexandra Martins, Joana Carvalho e Branco, Jorge ReisN/

Stent migration requiring surgical removal: a serious adverse event after bariatric megastent placement.

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The impact and evolution of acute-on-chronic liver failure in decompensated cirrhosis: A Portuguese single-center study

Acute-on-chronic liver failure (ACLF) is a dynamic syndrome that should be assessed repeatedly. An algorithm for risk stratification in decompensated cirrhosis was recently proposed by the EASL-CLIF (European Association for the Study of the Liver-Chronic Liver Failure) Consortium. AIM: To validate the EASL-CLIF Consortium scores in patients with and without ACLF. MATERIALS AND METHODS: Retrospective single-center cohort study including patients admitted for acute decompensation of cirrhosis between January 2014 and December 2015, and followed-up until December 2016. We separated patients with and without ACLF and compared the various EASL-CLIF Consortium scores to Child-Pugh and MELD for predicting 28-day (M28), 90-day and 12-month mortality. These scores were recalculated at different time points over 28 days. RESULTS: 106 patients were included (age 60.3±10.7 years; 87.7% male), 35.8% of whom met ACLF criteria on admission (50%) or during hospitalization. A CLIF-C AD Score ≥60 on admission was associated with a higher risk of developing ACLF. The onset of ACLF during hospitalization portended a poor prognosis. The prognostic performance of the CLIF-C ACLF Score (AUROC for M28: 0.856±0.071) was globally comparable to that of Child-Pugh and MELD. Overall, ACLF resolved in 54.1% patients, resulting in increased survival. Almost 40% of the patients reached their final ACLF grade after ≥8 days, with 13.9% of ACLF patients experiencing resolution by then. DISCUSSION: We confirmed the accuracy and clinical value of the several proposed scores in our population. Prognosis was better defined by the early clinical course than by the initial evaluation, emphasizing the importance of repeated assessments.info:eu-repo/semantics/publishedVersio