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.
