Pathologia

The human genome and the gut microbiome: molecular mechanisms of interaction in the context of the holobiont concept

2026-01-29T17:12:07+02:00

Over the last decade, scientific understanding of the human body has shifted from an anthropocentric model to the concept of the holobiont – an integrated ecological unit consisting of the host and its microbiome. The interaction between the human genome and microbiota is a key determinant of physiology, metabolism, and disease susceptibility, yet the mechanisms of this genetic control remain insufficiently systematized.

Aim. To analyze current data on the influence of the host genome on the formation and control of gut microbiota composition and function, and to identify key genetic loci and molecular mechanisms of interaction within the “genome – microbiome” system.

Materials and methods. A review of scientific literature was conducted using PubMed, Scopus, and Web of Science databases. Results from genome-wide association studies (GWAS), twin studies, and molecular genetic research were analyzed.

Results. Host genetics represents a significant factor in shaping the microbial profile, with heritability estimates for specific taxa ranging 5–45 %. Two main mechanisms of genetic control are identified: immune sculpting (genes NOD2, IL23R) and metabolic gardening (genes LCT, FUT2, APOA5). Synergistic effects of defects in these systems significantly increase the risk of chronic inflammatory and metabolic diseases. The hologenome concept, which views the combined genome of the host and microbiome as a single unit of evolution, is described.

Conclusions. The host genome actively shapes the microbial ecosystem through immunological and metabolic mechanisms. Understanding these interactions paves the way for personalized medicine based on a hologenomic approach, particularly for developing individualized microbiome correction strategies.

Morphological changes of GFAP+-astrocytes in the basal magnocellular nucleus of the rat brain as a result of early pathogenetic correction of colchicine-induced neurodegeneration

2026-02-27T09:56:34+02:00

Aim. To describe the morphological features of GFAP-positive cells in the basal magnocellular nucleus (BMN) of the rat brain of experimental rats under conditions of early pathogenetically substantiated correction of colchicine-induced neurodegeneration using citicoline, thiocetam, and HSF-1.

Materials and methods. Fifty male Wistar rats were divided into five groups (n = 10) as follows: group 1 – rats with intracerebroventricular (ICV) administration of 0.9 % NaCl (37 °C) (control); group 2 – rats with ICV administration of colchicine; group 3 – ICV colchicine followed by correction with citicoline; group 4 – ICV colchicine followed by correction with thiocetam; group 5 – ICV colchicine followed by correction with HSF-1. After 14 days of correction, the animals were withdrawn from the experiment by single-stage decapitation under anesthesia, after which the brain was immediately removed for subsequent standard histological processing and immunofluorescent analysis of GFAP-positive cells in the BMN.

Results. Colchicine administration (Group 2) induced maximum astrocyte activation in the BMN: cell density increased by 56.3 %, area by 254.5 %, and GFAP expression by 193.4 %, while the number of processes decreased by 75.0 % and their length increased by 18.8 %. The administration of neuroprotective agents (groups 3–5) significantly limited these changes compared to untreated animals. HSF-1 correction demonstrated the highest efficacy, reducing cell area by 39.6 % and 56.2 %, and GFAP expression by 16.8 % and 45.6 % compared to the citicoline and thiocetame groups, respectively. Furthermore, the therapy prevented the sharp reduction in process count and their pathological elongation.

Conclusions. In the basal magnocellular nucleus of experimental animals, hypertrophy and hyperplasia of astrocytes with increased GFAP expression and altered process morphology (elongation and reduced number) were observed on day 14 after intracerebroventricular colchicine injection. Early pathogenetically substantiated correction with citicoline, thiocetam and HSF-1 significantly reduced the indicators of GFAP⁺ astrocyte activation (density, area, and cytoskeletal protein expression) in the basal magnocellular nucleus compared with untreated animals; however, these parameters remained elevated relative to sham-operated controls. In the basal magnocellular nucleus, neuroprotective intervention with citicoline, thiocetam, and HSF-1 prevented the development of process-related morphological patterns characteristic of rats following intracerebroventricular colchicine injection, although the resulting changes did not reach the levels observed in sham-operated animals.

The efficacy of long-acting trimetazidine 80 mg in complex antianginal pharmacotherapy in patients with coronary heart disease and stable angina pectoris according to the results of the Ukrainian GO-OD study

2025-11-14T10:30:34+02:00

The aim of the study was to evaluate the clinical characteristics of patients’ population with coronary artery disease (CAD), stable angina, the composition and effectiveness of antianginal therapy, including combinations with trimetazidine OD 80 mg (TMZ 80).

Materials and methods. GO-OD was a 3-month, non-interventional, observational, multicentre prospective study. Pharmacotherapy was continued in accordance with current recommendations for optimal medical therapy (OMT). No additional diagnostic or monitoring procedures were performed on patients.

Results. Among 1,529 patients, 10.5 % had ССS I, 60.0 % – CCS II, and 29.5 % – CCS III; 28.5 % received one antianginal drug, 35.7 % received two, and 28.9 % received three. Classic symptoms of angina pectoris were present in 68.3 % of patients, while 80.3% reported angina equivalents. One third remained symptomatic despite revascularisation (32.5 %). BP above 140/90 mmHg was observed in 67.6 % of patients. The effectiveness of therapy optimisation was assessed in the following treatment change groups: 1 – without TMZ, TMZ 80 prescribed for the first time (n = 956); 2 – previously taking TMZ (20 mg or 35 mg), switched to TMZ 80 (n = 328); 3 – beta-blockers (BB) monotherapy, TMZ 80 added (n = 309); 4 – without BB and TMZ, simultaneous prescription of BB + TMZ 80 (n = 211); 5 – had molisodomine in any combination, continued treatment without mandatory addition of BB or TMZ 80 (n = 306). After 3 months in groups 1 and 2 (p < 0.001), starting from the second visit: the frequency of angina attacks per week decreased by 3.72 times and 3.33 times, respectively. In group 3: by 3.29 times and in group 4 by 4.5 times. The frequency of short acting nitrates (SAN) consumption decreased: in group 1 by 4.96 times, in group 2 by 4.62 times; in group 3 by 4.24 times and in group 4 by 6.93 times. In group 5, the frequency of angina attacks decreased by 4.22 times, but slower than in other groups, and the need for SAN decreased by 5.3 times, but against the backdrop of almost total changes in therapy (90.2 %), as well as the exclusion of molisodine (28.4 %) by the doctor’s decision. The proportion of patients with high adherence to treatment (from groups 1 to 4 at the end of follow-up) increased to 48.0 %, 43.9 %, 46.6 % and 46.2 %, respectively.

Conclusions. The population of CAD, angina patients remains symptomatic despite previous revascularisation and the use of monotherapy or combinations of haemodynamic antianginal drugs, which requires a review of antianginal therapy to achieve OMT. The inclusion of TMZ 80 in addition to any previous combination of antianginal drugs or the transition from other forms of TMZ to TMZ 80 is accompanied by a statistically significant improvement in the clinical condition of patients. The maximum positive effect of including TMZ 80 in therapy is observed in the group with simultaneous initiation of BB therapy.

Glucose-potassium ratio and pulmonary capillary wedge pressure as complementary prognostic markers in ischemic heart failure with preserved ejection fraction

2026-01-29T10:40:59+02:00

Heart failure with preserved ejection fraction (HFpEF) is a complex syndrome characterized by multi-organ involvement, systemic inflammation, and metabolic dysregulation. Pulmonary capillary wedge pressure (PCWP) reflects hemodynamic congestion, while the glucose-potassium ratio (GPR) has emerged as a non-invasive marker of renal tubular dysfunction and metabolic stress. The prognostic value of GPR, alone and in combination with PCWP, remains underexplored in patients with ischemic HFpEF.

Aim. To investigate the independent and complementary prognostic significance of the glucose-potassium ratio (GPR) and pulmonary capillary wedge pressure (PCWP) in predicting 5-year adverse outcomes in patients with ischemic HFpEF.

Materials and methods. Eighty-eight patients with ischemic HFpEF (NYHA functional class II–IV, stage II A–B; 41 men, 47 women; 59 with sinus rhythm and 29 with atrial fibrillation) were prospectively followed for 5 years. Baseline PCWP was estimated non-invasively using transthoracic echocardiography according to ESC/ASE recommendations, with the formula: PCWP (mmHg) = 1.24 × (E / e’) + 1.9, where E is the early mitral inflow velocity and e’ is the early diastolic mitral annular velocity. GPR was calculated from serum glucose and potassium. Receiver operating characteristic (ROC) analysis identified optimal cut-offs (GPR >1.18, PCWP >14.16 mmHg). Univariate and multivariate logistic regression models assessed the association with the composite endpoint of heart failure hospitalization or cardiovascular death/

Results. During follow-up, 9 patients (10.2 %) reached the composite endpoint. In univariate analysis, GPR >1.18 and PCWP >14.16 mmHg predicted adverse events (OR 11.15, p = 0.0048; OR 8.52, p = 0.0044, respectively). Serum glucose and potassium levels considered separately were not associated with outcomes. In multivariate analysis, both GPR (OR 9.79, p = 0.039) and PCWP (OR 7.51, p = 0.019) remained independent predictors. The combined model demonstrated high discriminative ability (AUC 0.837, p = 0.0007), indicating complementary but non-overlapping prognostic information.

Conclusions. In ischemic HFpEF, GPR and PCWP are robust, independent predictors of long-term adverse outcomes. GPR serves as a practical non-invasive surrogate of hemodynamic stress, offering prognostic insight comparable to invasive measurement. Their combined assessment may enhance risk stratification and guide personalized management strategies.

Features of PTEN, PAX-2 and PAX-8 expression in endometrial hyperplastic processes and endometrioid adenocarcinomas of the uterine body

2026-04-16T14:03:40+03:00

The clinical diagnosis of atypical uterine bleeding requires differentiation of the histological diagnosis between hyperplastic processes with and without atypia and highly differentiated (grade 1) endometrial adenocarcinomas, taking into account the further treatment tactics of patients. The lack of a common picture during the study of the material after endometrial scraping necessitates the improvement of histological and immunohistochemical criteria for verification of the corresponding diagnoses.

Aim of the study. To investigate the characteristics of the expression of the 3-marker panel in hyperplastic processes of the endometrium and highly differentiated endometrioid adenocarcinomas; to determine the diagnostic sensitivity and specificity of the 3-marker panel in endometrial glandular hyperplasia with and without atypia and endometrioid adenocarcinomas (EA) grade 1 of the endometrium using the latest international classification data and taking into account the diagnostic search capabilities of the healthcare sector of Ukraine.

Materials and methods. A retrospective analysis of 60 cases of postoperative material and excision of women for the period from 2021 to 2023 with a histological diagnosis of atypical and atypical glandular hyperplasia of the endometrium and highly differentiated (grade 1) EA included an assessment of morphological, histological, immunohistochemical characteristics with subsequent statistical processing of the results obtained.

Results. In the studied sample (n = 60), a statistically significant relationship was established between the frequency of PTEN and PAX-2 expression with process atypia (atypical hyperplasia → atypical hyperplasia → G1 adenocarcinoma) according to the Cochran-Armitage test (PTEN: Z = -3.95; p < 0.001; PAX-2: Z = -4.64; p < 0.001), which was confirmed by the χ²-test (PTEN: p < 0.001; Cramer V = 0.54; PAX-2: p < 0.001; Cramer V = 0.60) and Spearman correlation (PTEN: ρ = -0.510; p < 0.001; PAX-2: ρ = -0.599; p < 0.001). For PAX-8, no intergroup differences were found (p > 0.38 for each of the three above-mentioned tests), the expression remained consistently high in all groups. Therefore, the loss of PTEN and PAX-2 expression was associated with a more malignant process in this cohort, while PAX-8 did not demonstrate discriminatory ability between the considered groups.

Conclusions. The feasibility of using the PTEN and PAX-2 panel in endometrial hyperplastic processes as a prognostic was argued.

Changes in the periodontal microbiota in patients undergoing comprehensive treatment for chronic generalized periodontitis with an IL-1ra receptor antagonist

2026-04-16T14:06:30+03:00

Chronic generalized periodontitis is one of the most prevalent inflammatory diseases of periodontal tissues, characterized by progressive destruction of the tooth-supporting apparatus and a high rate of recurrence. A key role in its pathogenesis is played by dysbiosis of the periodontal microbiome combined with a dysregulated immune response, particularly the overproduction of pro-inflammatory cytokines, among which interleukin-1 (IL-1) is of central importance.

The aim of the study was to evaluate the effect of an IL-1 receptor antagonist (IL-1ra) Anakinra on microbial contamination of periodontal pockets in patients with chronic generalized periodontitis during combined treatment..

Materials and methods. The study included 87 patients aged 25–65 years, who were divided into three groups: basic therapy (n = 34), basic therapy with Anakinra (n = 31), and basic therapy with Cholisal gel (n = 22). Microbiological assessment was performed using quantitative PCR with identification of key periodontal pathogens.

Results. It was found that before treatment all patients exhibited a high level of microbial contamination (5.8–6.3 log₁₀ CFU/mL), with predominance of red complex bacteria. The use of Anakinra resulted in a significantly greater reduction in bacterial load as early as 30 days (by 38.6–42.5 %, p < 0.001) compared to basic therapy and the comparison group. After 90 days, microbial reduction in this group reached 55.5–72.5 %, with levels decreasing to 2.6–3.1 log₁₀ CFU/mL. The most pronounced reduction was observed for Porphyromonas gingivalis, Tannerella forsythia, and Treponema denticola, confirming the role of IL-1 in shaping a pathogenic microbial environment. The effect of Anakinra was shown to be indirect and mediated through modification of the inflammatory microenvironment, thereby limiting the persistence of anaerobic bacteria.

Conclusions. The obtained results demonstrated the high efficacy of IL-1ra (Anakinra) receptor antagonist in the complex treatment of periodontitis and substantiated its use as a pathogenetically targeted approach affecting both immune and microbiological mechanisms of disease progression.

Characteristics of collagenogenesis in the blood-thymus barrier of macrosomic fetuses

2026-02-27T09:22:12+02:00

Aim: the primary objective of this study was to improve the pathomorphological diagnosis of macrosomia in stillborn fetuses. This was achieved by analyzing the characteristics of collagen synthesis in the structural components of the blood-thymus barrier in macrosomic stillborn fetuses and relating these findings to specific anthropometric parameters.

Material and methods. Our study examined 34 thymus specimens from macrosomic stillborn fetuses, which we divided into three groups (SF1, SF2, SF3) based on their Height and Weight Index (HWI). Group of medium-weight fetuses, randomly selected as the control group (SFc) (n = 9). Research methods: histological, immunohistochemical, morphometric. Statistical analysis was performed in accordance with the current methodological requirements.

Results. In endothelial basement membranes the synthesis of type IV collagen was significantly reduced in macrosomes fetuses of the SF1 group (p ≤ 0.05), with a tendency to increase in macrosomes of the SF3 group. In epithelial basement membranes, there was a significant increase in the production of type IV collagen in the thymus of SF3 group (p ≤ 0.05) and a tendency toward a decrease in the expression of this collagen in SF1 group of macrosomes. Compared to the control, in the reticular fibers and amorphous substance of the blood-thymus barrier the optical density of the luminescence of type III collagen was maximal in observations of the SF3 group and minimal in large fetuses of the SF1 group.

Conclusions. In the structure of the blood-thymus barrier of large fetuses, the expression of type IV collagen was detected in the composition of the epithelial and endothelial basement membranes. Vascular basement membranes contained a greater amount of type IV collagen compared to the epithelial basement membranes of blood-thymus barrier, depending on the anthropometric characteristics of the fetuses. In the reticular fibers and amorphous substance of the blood-thymus barrier of stillborns, irrespective of their anthropometric characteristics, type III interstitial collagen was detected.

Laryngopharyngeal cancer: comparative analysis of survival with surgical and non-surgical treatment algorithms

2026-03-23T20:48:58+02:00

Hypopharyngeal cancer is one of the most aggressive head and neck malignancies, characterized by late diagnosis and a poor prognosis. Selecting the optimal radical treatment strategy remains a challenging clinical issue, highlighting the need for a comparative analysis of existing methods to improve personalized therapy.

Aim: To conduct a retrospective real-world data analysis and evaluate treatment outcomes in patients with locally advanced stage III and IVa squamous cell hypopharyngeal carcinoma.

Materials and methods. A retrospective analysis was conducted on 120 patients with stage III-IVa squamous cell hypopharyngeal carcinoma (2013–2024). Patients were divided into four groups: Group 1 – surgery with adjuvant therapy (n = 11); Group 2 – neoadjuvant chemotherapy (NACT) followed by surgery (n = 20); Group 3 – chemotherapy and radiation therapy (n = 72); Group 4 – chemoradiotherapy (n = 17). Overall survival (Kaplan–Meier method) and recurrence characteristics were evaluated. Multivariate Cox regression analysis was applied to identify independent prognostic factors, adjusting for clinical and morphological characteristics (T stage, N stage, grade G, growth form, age and gender).

Results. The lowest 1-year mortality was recorded in Group 2 (25.0 %) and Group 1 (36.4 %), while in non-surgical groups, it reached 62.5–70.6 %. Group 2 demonstrated the highest 3-year survival rate (65.0 %), significantly exceeding the results of Group 3 (29.1 %) and Group 4 (23.5 %). Recurrence rates were highest in Group 2 (60.0 %). According to multivariate Cox regression analysis, treatment with the NACT + surgery algorithm (Group 2) was associated with improved overall survival compared to the conservative standard (HR = 0.38, p = 0.023), indicating its possible role as a favorable prognostic factor.

Conclusions. Retrospective real-world data analysis demonstrated that treatment algorithms involving a surgical component are associated with higher 3-year overall survival rates (36.4–65.0 %) compared to non-surgical methods (23.5–29.1 %). The strategy of NACT followed by surgery showed the highest survival (65.0 %). The higher recorded recurrence rate in surgical groups (60.0 %) may be related to prolonged patient survival and broader opportunities for effective salvage therapy. However, these findings are associative and require confirmation in prospective studies.

Synovial chondromatosis in a young female knee: diagnostic and therapeutic insights

2026-01-21T11:06:07+02:00

Aim of the study: to present a rare case of synovial chondromatosis involving the knee joint in a young female patient, highlighting its clinical features, diagnostic challenges, pathological findings, and management outcomes, in the context of its recent reclassification as a benign neoplasm.

Materials and methods. A 19-year-old female presented with chronic swelling and pain in the right knee for one year, with increased pain and restricted joint movement over the past two months. Clinical evaluation, fine-needle aspiration cytology, and magnetic resonance imaging were performed. The patient underwent open surgical excision with extensive synovectomy, and the excised specimen was subjected to detailed gross and histopathological analysis.

Results. Magnetic resonance imaging revealed multiple intra-articular cartilaginous nodules within the knee joint, predominantly located around the cruciate ligaments and Hoffa’s fat pad. Gross examination revealed multiple grayish-white nodules, while histopathology demonstrated lobules of hyaline cartilage lined by synovium without atypia, confirming the diagnosis of synovial chondromatosis. Postoperative recovery was uneventful with significant improvement in joint mobility. At the three-month follow-up, the patient achieved full, painless range of motion, and no recurrence was noted clinically or radiologically at six months.

Conclusions. Synovial chondromatosis is a rare benign neoplasm of the synovium that may mimic other intra-articular pathologies. Diagnosis requires a combination of clinical, radiological, and histopathological findings. Complete surgical excision with synovectomy offers excellent functional recovery and minimizes the risk of recurrence. Vigilant long-term follow-up is recommended to monitor for potential malignant transformation.

Plasmacytoid variant of bladder cancer is a histological factor of extremely unfavorable prognosis of recurrence-free and cancer-specific survival in organ-preserving surgical treatment of bladder cancer: clinical observations of 4 patients

2025-10-21T13:38:17+03:00

Organ-sparing surgical treatment of muscle-invasive bladder cancer is considered a treatment of choice in carefully selected patients, as it can provide satisfactory survival rates and high quality of life due to preservation of the bladder. However, there is a group of patients who, while meeting the criteria for bladder resection, have an extremely poor prognosis in terms of overall (OS), relapse-free (RFS) and progression-free survival (PFS) due to a certain histological variants of bladder cancer, which necessitates immediate radical cystectomy.

Aim: to investigate the impact of the plasmacytoid variant of urothelial carcinoma of the bladder on both OS, RFS, and PFS rates, and on the tactics of radical treatment of patients with organ-confined bladder cancer who were candidates for organ-sparing treatment at initial presentation.

Materials and methods. The medical records of 215 patients with bladder cancer who underwent surgery between 2020–2025 at the Center for Urology and Urological Oncology of the Feofaniya Clinical Hospital of the State Administration of Affairs were retrospectively analyzed. Among them, we selected patients who harbored elements of plasmacytoid differentiation of urothelial carcinoma in primary transurethral resection of a bladder (TURB) specimen, which has been confirmed by immunohistochemical staining. As a control for assessing survival rates using Kaplan–Meier analysis, an identical number of patients with pure urothelial carcinoma of identical stages, age, gender, and primary treatment tactics who had local recurrence after TURB was selected.

Results. The prevalence of plasmacytoid urothelial carcinoma (PVUC) among our patients with bladder cancer was 1.86 %, or 4 patients. The mean age of the patients was 53.5 ± 10.3 years, and 50 % were men. All survival rates after organ-preserving treatment in the scope of TURB were significantly worse for patients with plasmacytoid urothelial carcinoma compared with pure urothelial carcinoma. The median OS, RFS, and PFS for PVUC were 6 months (p = 0.0177), 1.5 months (p = 0.0067), and 4.5 months (p = 0.0207), respectively. For pure urothelial carcinoma, the median RFS was 17 months, and the median PFS and OS were not reached. In patients with PVUC who underwent emergency radical cystectomy for local recurrence, the median OS, RFS, and PFS were not reached at 12 months of follow-up.

Conclusions. Plasmacytoid variant of urothelial carcinoma is a factor of extremely unfavorable prognosis of overall, relapse-free and progression-free survival of patients after organ-sparing treatment of bladder cancer, compared with pure urothelial carcinoma. Detection of plasmacytoid variant in a biopsy of bladder cancer requires the fastest possible radical cystectomy in order to ensure the best overall survival rates.

Cardiac myxomas causing chamber obstruction: report of two clinical cases and surgical management

2025-10-21T13:27:56+03:00

Primary cardiac tumors are rare, and myxomas account for the majority of benign neoplasms. In uncommon cases, large myxomas can cause significant intracardiac hemodynamic disturbances that mimic valvular defects, heart failure, or thromboembolic conditions. Timely diagnosis and appropriate surgical management are essential to prevent life-threatening complications.

Aim. To analyze the features of intracardiac hemodynamics in patients with myxomas causing chamber obstruction and to present own clinical observations for evaluating the effectiveness of surgical tactics.

Materials and methods. Two clinical cases of large cardiac myxomas causing obstruction of the left and right heart chambers are presented. A comprehensive assessment of clinical symptoms, instrumental studies (transthoracic and transesophageal echocardiography, CT angiography), and surgical outcomes was performed. Histopathological verification of the diagnosis was obtained through microscopic examination of the resected tumors.

Results. In both patients, giant myxomas with pronounced outflow obstruction were identified, manifesting with severe dyspnea, pulmonary hypertension, and signs of congestive heart failure. Both patients underwent successful surgery: in the first case – a left atrial myxoma prolapsing into the left ventricular outflow tract, and in the second – a multilobular right atrial myxoma obstructing the inferior vena cava and the right atrioventricular orifice. The use of parallel cardiopulmonary bypass and individually selected surgical access ensured complete tumor excision and stabilization of hemodynamics without postoperative complications. Histopathological examination confirmed the benign nature of the tumors.

Conclusions. Giant cardiac myxomas causing hemodynamically significant chamber obstruction can lead to severe heart failure and pose an immediate threat to life. Echocardiography remains the leading diagnostic method that allows determining the size, location, and mobility of the tumor. Surgical resection with subsequent histopathological verification is the treatment of choice, providing high survival rates and a minimal risk of recurrence.

Gastrointestinal tract involvement in systemic mastocytosis: a clinical case

2026-01-03T17:56:04+02:00

Mastocytosis is a group of rare heterogeneous diseases caused by excessive proliferation and accumulation of mast cells in various organs and systems. Diagnosis of mastocytosis with gastrointestinal tract involvement is a difficult task, since the symptoms often resemble other, more common diseases.

The aim of the study is to describe the problems of diagnosing systemic mastocytosis with gastrointestinal involvement based on a clinical case.

Materials and methods. The clinical observation of a 57-year-old patient who complained of periodic flatulence, diarrhea, discomfort in the left iliac region, weight loss, periodic manifestations of mild depression is presented.

Results. Endoscopic examination of the colon revealed multiple whitish plaque-like formations of unclear origin, not pathognomonic for other diseases of the colon. Histological and immunohistochemical studies of colon biopsies revealed the major and minor criteria that allowed the diagnosis of systemic mastocytosis with gastrointestinal involvement. An elevated serum tryptase level further supported the diagnosis of systemic mastocytosis in this patient.

Conclusions. Systemic mastocytosis with gastrointestinal involvement is difficult to diagnose, significantly impairs patients’ quality of life, and some of its forms can be life-threatening as they progress, therefore requiring careful clinical follow-up and laboratory monitoring. Qualified medical care for patients with systemic mastocytosis, including those with gastrointestinal involvement, requires a multidisciplinary team of specialists with the participation of a gastroenterologist, endoscopist, hematologist, and pathologist. Early and timely diagnosis of systemic mastocytosis is important not only for the symptom control, but also for slowing the progression of the disease.