Crohn’s disease with isolated gastric involvement as an example of a rare disease phenotype: a clinical case

Crohn's disease (CD), along with ulcerative colitis, is one of the predominant nosological forms of inflammatory bowel diseases. In CD, any part of the gastrointestinal tract can be affected; however, the process is commonly associated with terminal ileum or colon involvement. CD cases with isolated or mixed involvement of upper gastrointestinal tract (esophagus, stomach, and duodenum) are rare and least studied types of the disease. In isolated stomach involvement, the complaints are non-specific and include epigastric pain, gastric dyspepsia, early satiety, decreased appetite, and nausea. Isolated CD of upper gastrointestinal tract can be diagnosed after comprehensive work-up and always requires a high diagnostic level, including clinical, endoscopic and morphological one. We present a clinical case of CD with isolated stomach involvement in a 62-year-old woman. The diagnosis was confirmed by the histopathological findings of an epithelioid cell granuloma in the gastric antrum. Treatment with systemic corticosteroids reduced the disease clinical activity and improved the histological characteristics of the gastric biopsy sampled obtained by endoscopy. In this clinical case, there were specific macroscopic gastric lesions found at endoscopy in CD patients with upper gastrointestinal tract involvement, which is characterized by thickened longitudinal folding and linear grooves. This type of lesion has been described in the literature as “bamboo joint-like appearance”.Conclusion: Comprehensive assessment of clinical manifestations, endoscopic and histopathological specific features is crucial for the timely diagnosis and treatment of inflammatory bowel diseases

Functional polymorphism of the serotonin reuptake transporter SLC6A4 gene in various clinical variants of irritable bowel syndrome

Rationale: Irritable bowel syndrome (IBS) is a multifactorial disease, the genetic aspect of which is being actively studied.Aim: To investigate functional polymorphism of the serotonin reuptake transporter (SERT) SLC6A4 gene of various clinical variants of IBS.Materials and methods: We performed a cross-sectional single center study in 79 Caucasian patients with IBS (according to the Rome criteria IV). The patients were divided into two groups: group 1, IBS with diarrhea (IBS-D, n = 45) and group 2, IBS with constipation (IBS-C, n = 34). The control group included 59 Caucasian patients with gastrointestinal disorders without IBS. Polymorphism 5-HTTLPR of the SLC6A4 gene was assessed in all subjects. In group 1 patients, blood serotonin levels were measured and psychological tests were performed, including Spielberger's State / Trait Anxiety Inventory, quality of life by SF36 and GSRS, Asthenia scale, VAS scores for pain intensity.Results: Thirty-five of 45 (77.8%) patients with IBS-D carried the mutant S allele, which was significantly more frequent than in the IBS-C group (p = 0.002) and in the control group (p = 0.005). There were no statistically significant differences (p = 0.54) in the frequency of detection of the homozygous LL genotype (normal allele) and the heteroand homozygous mutant alleles (SL and SS) genotype between the IBS-C and control patients. In the IBS-D group, a gender difference for the mutant SS allele of 5-HTTLPR was found, with significantly higher frequency in female patients (p = 0.0147). No significant gender differences in the genotype distribution between the patients with IBS-C and the control group were found. There were also no differences in blood serotonin levels in the IBS patients with various 5-HTTLPR types (p = 0.086); they were all in the reference range. However, there was a trend towards lower serotonin levels in the LL genotype carriers compared to those with the SS/SL polymorphisms. The Gastroenterological inventory GSRS demonstrated significantly higher total score for the constipation syndrome in the patients with homozygous LL 5-HTTLPR polymorphism, compared to that in the patients with the SS/SL genotype (p = 0.013).Conclusion: The results may be related to lower expression of the SLC6A4 gene in the carriers of the mutant allele in the 5-HTTLPR promoter and subsequent decreased rate of serotonin uptake, with resulting stimulation of the gastrointestinal tract. The SERT polymorphism of the SLC6A4 gene is worth further investigation as a potential candidate gene in the IBS pathophysiology