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Volume 86 - 2023 - Fasc.4 - Reviews

An update on Eosinophilic Esophagitis

Eosinophilic Esophagitis (EoE) is a chronic condition characterized by eosinophilic infiltration of the esophageal mucosa and symptoms resulting from esophageal dysfunction. The most important symptom is dysphagia, which causes an impaired quality of life and significant healthcare costs. Food allergies have a key role in the development of EoE: the removal of specific foods from the diet is sufficient to reduce esophageal inflammation and improve symptoms. The diagnosis of EoE is based on a combination of symptoms, eosinophilic infiltration and the absence of other conditions which can explain esophageal eosinophilia (mainly gastro-esophageal reflux disease). Diagnostic delay should be avoided because if left untreated, a fibrostenotic phenotype can develop with strictures. Current therapeutic approaches are based on the “3 D’s” concept: Dietary management, Drug therapy and esophageal Dilation. Dietary management can be based on an elemental diet (amino acid-based), which is rarely used in adults because of the poor palatability; an empiric elimination diet (2- 4-6 food elimination diet). Medical treatment is still the most commonly used approach in EoE. In particular, swallowed topic corticosteroids such as topical budesonide or fluticasone have been shown to be very effective in reducing esophageal inflammation. More recently, biological treatments have been evaluated as novel treatment options for EoE, targeting different cytokines or receptors in the Th2 immune reaction. Finally, in case of esophageal stricture, dilation is warranted.


Approach to the patient with non-cirrhotic splanchnic venous thrombosis: a brief narrative review

Splanchnic venous thrombosis refers to the obstructive events of the abdominal venous system (portal, splenic, mesenteric, and suprahepatic) present with or without an underlying liver disease. These are rare disorders generally associated with both local risk factors, such as intra-abdominal infections, surgery or abdominal trauma, and systemic risk factors, represented by drugs (notably estrogen therapy) and some types of inherited or acquired thrombophilia, including myeloproliferative neoplasms associated with the V617F mutation of the JAK2 gene. The clinical presentation is heterogeneous, ranging from asymptomatic patients with incidental findings on abdominopelvic imaging to severe systemic compromise in sudden onset cases, with a high morbidity and mortality burden. Anticoagulation therapy is the current recommended treatment based on observational studies, with no consensus on management in the acute and long-term setting for both inmediate complications such as acute liver failure and intestinal ischemia or those arising from secondary portal hypertension over a longer period of time.


Primary extrarenal rhabdoid tumour of the liver: a case report and literature review

Background: Extrarenal rhabdoid tumours (ERT) are highly aggressive tumours that are poorly responsive to standard cytotoxic chemotherapy and are associated with a grim prognosis. Primary ERT of the liver are most commonly observed in early childhood and exceptionally rare later in life. Case presentation: We report the case of a 16-year-old male patient, presenting with flu-like symptoms after his second COVIDvaccination. During the work-up, a large solid liver lesion was incidentally discovered upon abdominal ultrasound examination. Pathological examination rendered the diagnosis of primary ERT of the liver, characterized by the loss of expression of INI-1 protein, encoded by the SMARCB1 gene. We summarized and discuss the existing literature by reviewing 53 pediatric and 6 adult cases, including the histological features treatment and outcomes of primary hepatic ERT. Conclusion: Primary ERT of the liver are usually not associated with specific signs or symptoms, making the diagnosis very challenging. As ERT are associated with a high metastatic rate, delayed diagnoses lead to increased mortality, as complete resection is not possible in advanced-stage cases. Therefore, early diagnoses, enabling complete resection of the tumour are crucial to improve patient outcomes. Of interest, primary ERT of the liver, is associated with biallelic loss of the SMARCB1 (SWI/ SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) gene, a potential target for cancer therapeutics. This is, to our knowledge, the first case of a hepatic rhabdoid tumour treated with liver transplantation.