GE Portuguese Journal of Gastroenterology最新文献

Introduction: Hepatocellular injury is characterized by elevated levels of aspartate aminotransferase (AST) and alanine aminotransferase (ALT). In contrast, alkaline phosphatase levels are usually elevated in cholestatic diseases. Due to the multiples causes, it is crucial to define the etiology for proper management. The most common diagnoses are viral hepatitis, autoimmune hepatitis, Wilson's disease, drug-induced liver injury, acute alcoholic hepatitis, and ischemic hepatitis. Extrahepatic causes such as endocrine and cardiovascular conditions should also be considered.

Case presentation: A 46-year-old male presented with a 2-month history of elevated transaminase levels that progressed to jaundice and dark urine (choluria) in the preceding 30 days. During the investigation, it was discovered that the hepatocellular injury was caused by hypoperfusion secondary to a retroperitoneal catecholamine-secreting sympathetic paraganglioma, in which the patient achieved a favorable outcome with complete preservation of liver function.

Conclusions: This case highlights the importance of considering rare causes of hepatocellular injury.

Introduction: Ulcerative colitis (UC) and Crohn's disease (CD) are inflammatory bowel diseases (IBDs) characterised by chronic inflammation of the digestive tract. Patients with IBD often present a suboptimal disease control due to the limited efficacy of current treatments and inadequate disease management. A suboptimal disease control is often associated with poor quality of life (QoL) and a higher economic burden. The objective of this study was to assess the proportion of suboptimal disease control in daily clinical practice, the associated impact on QoL, and the economic burden in patients with UC and CD in Portugal.

Methods: This was a non-interventional, multicentre study, wherein clinician-reported outcomes, patient-reported outcomes, and retrospective data were collected from medical chart review from May 17, 2022, to October 17, 2022, in five hospital centres in Portugal. The primary outcomes of this study were to estimate: (1) the proportion of CD and UC patients with suboptimal disease control, according to the STRIDE-II based recommendations, and (2) the associated impact on QoL of optimal and suboptimal controlled CD or UC.

Results: Of 130 patients included (67 with CD and 63 with UC), 56.7% of CD and 31.7% of UC patients were reported to have suboptimal disease control according to STRIDE-II based recommendations. Notably, 82.1% and 54.0% of the patients with CD and UC were currently on targeted immunomodulator (TIM). Patients with CD and UC and suboptimal disease control showed an impaired QoL compared to those with optimal control. Mean annual healthcare costs were substantially higher among patients with CD with optimal control and patients with UC with suboptimal control.

Conclusion: Despite the high rate of treatment with TIM, a considerable proportion of patients with IBD had a suboptimal disease control, indicating a substantial disease burden. Ensuring effective disease management of these patients is crucial as a suboptimal disease control may negatively affect the patient's long-term clinical outcomes and QoL.

Introduction: Basal layer type squamous cell carcinoma (BLSCC) is a rare subtype of esophageal carcinoma imposing challenges in the diagnosis and endoscopic treatment with prognostic implications. We report a case of BLSCC successfully treated by complete circumferential endoscopic submucosal dissection.

Case presentation: A 73-year-old man with a history of a stable non-Hodgkin's lymphocytic lymphoma presented with dysphagia. After a demanding diagnostic workup, an almost circumferential and extensive tenuous flat lesion of the distal esophagus was found. In a multidisciplinary team discussion, a circumferential endoscopic dissection approach was decided, which proved to be curative. The final histopathological diagnosis was BLSCC, a challenging diagnosis of a rare form of squamous cell neoplasia. There were no adverse events, including esophageal stenosis, or recurrence during a 12-month follow-up.

Conclusion: Endoscopic submucosal dissection is an effective and safe therapeutic option for this rare type of esophageal squamous cell carcinoma, even with extensive esophageal involvement.

Background: Pancreatic cysts are increasingly recognized nowadays, with estimated prevalence that may reach 50% in aging populations. Most cysts are of benign origin, and only a small proportion has malignant potential, including intraductal papillary mucinous neoplasms (IPMNs). Since pancreatic cysts are common, the most important goal was to identify the small percentage at high risk of developing malignancy. The increased detection and awareness of IPMNs led to the development of several consensus and guidelines, with only the most recent being evidence-based.

Summary: Current consensus guidelines recommend risk assessment to prioritize high-risk patients for malignancy. In the Fukuoka/Kyoto guidelines, the predictive factors of malignancy are called "high-risk stigmata" and "worrisome features." Conversely, other guidelines consider the terms "absolute indication" and "relative indication" for surgery, as well as criteria for referral to multidisciplinary groups. In case of non-resected IPMNs, criteria for surveillance depend on cyst size, with magnetic resonance imaging pointed as the most consensual modality for follow-up, although the recommended imaging modality varies among consensus. In some situations, namely, older age, frailty/comorbidities, or stability of cyst size, follow-up discontinuation may be considered.

Key message: Performance of surveillance guidelines is measured by the ability to identify patients with high-grade dysplasia/early stage-invasive cancer. Guidelines with more intense protocols will likely lead to fewer missed cancers, balanced by a greater number of benign resections. Multidisciplinary management preferably in reference centers is of utmost importance given the indolent and complex nature of the disease, and a global evidence-based guideline that combines the several guidelines' groups is mandatory to uniformize care. In this review, the Portuguese Pancreatic Club summarizes the risk assessment and surveillance strategy of a patient with an IPMN according to different guidelines in order to create an updated perspective and to guide clinical care.

Introduction: Barrett's esophagus (BE) is a premalignant condition that requires surveillance, in order to diagnose and treat dysplasia, improving survival. Results from surveillance and endoscopic treatment are well-described in different populations. This is the first evaluation of the outcomes of endoscopic resection and ablation of BE patients in a Portuguese center.

Methods: This is a single-center retrospective cohort study analyzing the results of endoscopic surveillance and treatment of patients with BE between January 2004 and September 2024. The following outcomes were evaluated: detection of dysplasia and/or visible lesions; rate of curative endoscopic resection; rate of BE refractory to ablation; adverse event (AE) rates of endoscopic resection and ablation; BE-related mortality and survival.

Results: Eighty-nine patients were followed for a median of 3 years (interquartile range 1-6). A total of 37 lesions were identified, and treated with endoscopic mucosal resection (EMR), endoscopic submucosal dissection (ESD) and other modalities in 76%, 16%, and 8% of patients, respectively, with curative resection and AE rates of 86% (95% CI: 67%-96%) and 11% (95% CI: 2%-28%) for EMR, and 67% (95% CI: 22%-96%) and 17% (95% CI: 0%-64%) for ESD, respectively. A response rate of 97% was observed in 33 patients submitted to mucosal ablation, with 1 patient presenting refractory disease and 1 patient showing recurrence of intestinal metaplasia. One patient died of BE-related neoplasia.

Conclusion: Our study shows results of BE treatment generally comparable to published literature, in a low-prevalence country. A high curative resection and a high success rate of mucosal ablation were achieved, with low refractory and recurrent disease.

Introduction: Giant condyloma acuminatum, known as Buschke-Löwenstein tumor, is a rare benign tumor. Several risk factors are described, including immunosuppression, diabetes, tobacco use, and multiple sexual partners. About 90% of cases are associated with human papillomavirus infection. Given the rarity of this lesion, there are still no established guidelines for the assessment and treatment of this tumor. The most reported and consensus approach described in the literature is surgical intervention.

Case presentation: We report a case of a 32-year-old man who was immunosuppressed following a lung transplant due to cystic fibrosis. He also had stage IV chronic kidney disease and chronic pancreatitis. The patient was evaluated in a proctology consultation due to complaints of itching, perianal pain, and constipation with a 4-month history. Clinical examination showed a cauliflower-like, papillomatous tumor measuring 9 cm along the perianal area with other surrounding smaller lesions. The evaluation of immunodeficiency virus, hepatitis C virus, hepatitis B virus and syphilis was negative. The patient denied engaging in receptive anal sex and other risky sexual behaviors. A macro biopsy of the lesion was performed, and the histopathological examination revealed an anal condyloma acuminatum, with no signs of malignancy. Therapy with imiquimod was initiated for several weeks, with no significant reduction in lesion size. In a multidisciplinary discussion, it was decided to start neoadjuvant chemoradiotherapy with capecitabine and mitomycin. After 5 months of treatment, a significant reduction in lesion size was observed with significant clinical improvement. Currently, the patient has no proctological symptoms and no need for analgesia.

Introduction: Wilson's disease is a rare inherited disorder caused by mutations in the copper transporter ATP7B.

Case presentation: We present the case of a 33-year-old woman who was admitted with decompensated liver cirrhosis, initially suspected to have autoimmune hepatitis and treated with corticosteroids without improvement. Further investigation confirmed the diagnosis of Wilson disease. Despite initiating penicillamine therapy, the patient's condition worsened, requiring urgent liver transplantation.

Conclusion: This case highlights the diagnostic challenges of Wilson's disease, given its rarity and mimicry of other conditions, particularly when accompanied by autoimmune features, underscoring the importance of early referral for transplantation.

Introduction: Hypereosinophilic syndrome (HES) is an uncommon disorder characterized by persistent peripheral eosinophilia and involvement of different organs. It is rare in pediatric ages.

Cases presentation: We present 3 pediatric patients diagnosed with HES exhibiting digestive symptoms. Clinical records, laboratory results, imaging studies, and treatment plans were systematically collected and analyzed. All patients underwent an extensive etiological investigation to exclude infectious, autoimmune, and tumoral causes. Treatment with corticosteroids resulted in symptomatic and analytical improvement in all patients.

Conclusion: This case series highlights the complexity of pediatric HES presenting with digestive manifestations. The diverse clinical presentation underscores the importance of considering HES in the differential diagnosis of unexplained gastrointestinal symptoms in children. Diagnostic and treatment challenges demand a multidisciplinary approach. These insights enhance our knowledge of this rare condition, enlarging the limited literature on this subject in the pediatric population.