Common variable immune deficiency, central diabetes insipidus, and anemia.

Common variable immune deficiency (CVID) accounts for approximately 20% of all cases of primary immune deficiencies, and is characterized by low serum levels of IgG, IgA, and/or IgM. The diagnosis is usually made between 20 and 40 years of age, sometimes earlier. CVID patients are divided into two major groups based on complications observed: 1 group consists of patients with predominant infections, and 2 group includes patients with inflammatory and/or hematological complications, such as lymphadenopathy, splenomegaly, autoimmune cytopenia, enteropathy, and/or granulomatous conditions. The most prevalent gastrointestinal symptom is transitory or persistent diarrhea. Central diabetes insipidus (CDI) is a rare disease associated with decreased synthesis or release of antidiuretic hormone that leads to an excessive production of diluted urine (polyuria). Different factors can lead to the development of CDI, including autoantibodies to arginine vasopressin-producing cells. Celiac disease is an autoimmune condition affecting small intestine in genetically predisposed individuals, which can be associated with endocrinopathies. Here, we describe a patient with CVID, CDI, gluten-sensitive diarrhea, and anemia of combined type (thalassemia minor and B12-deficiency anemia).

Role of Fecal Calprotectin as a Noninvasive Indicator for Ulcerative Colitis Disease Activity.

BACKGROUND: It is essential in clinical management to determine the disease activity in ulcerative colitis (UC) patients. At present, the most accurate way of evaluating the UC severity is endoscopy with biopsy. Fecal calprotectin (FCP) is a non-invasive biomarker that is frequently used for monitoring of intestinal inflammation. AIMS: The purpose of our study was to assess the role of FCP as a noninvasive indicator for UC disease activity. MATERIALS AND METHODS: This prospective study enrolled 116 patients with UC (56 with quiescent UC and 60 with active UC) and 36 controls, referred for colonoscopy to our Center. Colonoscopy was performed in all the patients and the findings were graded according to Mayo endoscopic score (EMS) and UC endoscopic index of severity (UCEIS). FCP was analyzed in stool samples by means of point-of-care desk-top Quantum Blue® method. RESULTS: There was no significant difference between mean FCP levels in controls and UC patients in remission (р=0.205). Mean FCP in patients with active UC was significantly higher than that in controls (p<0.001) and in patients in remission (p<0.001). FCP significantly correlated with UCEIS (r = 0.869, p<0.001) and EMS (r = 0.814, p<0.001). CONCLUSION: The strong correlation with endoscopic disease activity suggests that FCP is a useful biomarker for noninvasive diagnosis and monitoring of disease activity in UC patients.

Trefoil Factor 3 is Highly Predictive of Complete Mucosal Healing Independently and in Combination with C-Reactive Protein in Patients with Ulcerative Colitis.

AIM: In the current study we aimed to evaluate the role of trefoil factor 3 (TFF3) as a marker for complete mucosal healing (MH) in patients with ulcerative colitis (UC). METHODS: We enrolled 116 consecutive UC patients. Trefoil factor 3 levels were measured by ELISA and were compared to the clinical activity, assessed by Lichtiger Index, fecal calprotectin (FCP) and C-reactive protein (CRP) levels. Colonoscopy was performed in all the patients and the findings were graded according to Mayo endoscopic score (EMS) and UC endoscopic index of severity (UCEIS). RESULTS: Trefoil factor 3 levels were significantly correlated with Lichtiger Index (r=0.736, p<0.001), EMS (r=0.811, p<0.001), UCEIS (r=0.820, p<0.001), FCP (r=0.696, p<0.001) and CRP (r=0.405, p<0.001). The TFF3 cut-off level of 6.74 ng/ml indicated complete MH (EMS=0; UCEIS=0) with a sensitivity and specificity of 0.879 and 0.869, respectively (area under the curve, AUC 0.927; 95% confidence interval, 0.877-0.976). The DeLong's test revealed no significant difference between the AUC of TFF3+CRP and the AUC of FCP (Z=1.717, p=0.086), AUC of TFF3+FCP (Z=1.908, p=0.056), and AUC of TFF3+CRP+FCPP (Z=1.915, p=0.056). However, the AUC of TFF3+CRP showed significant difference compared with the AUC of TFF3 (Z=2.210, p=0.027) and the AUC of CRP (Z=3.145, p=0.002) for predicting complete MH. CONCLUSIONS: Trefoil factor 3 levels correlated significantly with clinical activity, endoscopic indices, CRP and FCP in our patients. TFF3 is a highly predictive marker of complete MH independently and in combination with CRP in patients with UC.

Gastrointestinal metastases from breast cancer: report of two cases.

Metastatic involvement of the gastrointestinal (GI) tract secondary to breast cancer (BC) is rare and usually occurs in patients with lobular BC. We report 2 cases with GI presentations of metastatic BC. In the first case endoscopy and endoscopic ultrasonography because of abdominal discomfort, tenesmus and rectal bleeding demonstrated liver, gastric and rectal metastases with histological and immunohistological patterns of metastatic lobular BC. In the second case gastric involvement, endoscopically presented as a solid nodular lesion in the gastric body and fundus with involvement of the gastro-esophageal junction, was established with clinical symptoms of solid food dysphagia and dyspepsia; the metastatic infiltration from ductal BC was proven histologically and immunohistochemically. The GI metastases were presented 5 and 7 years after radical mastectomy because of lobular and ductal BC respectively. The cases are of interest with a feature of liver and GI metastases in double sites (stomach and rectum) from lobular BC, as well as solid gastric metastasis from ductal BC. They illustrate the need for special attention to GI metastatic disease in patients with invasive BC who present with non-specific GI symptoms.

Increased intestinal permeability in inflammatory bowel diseases assessed by iohexol test.

AIM: To study intestinal permeability (IP) and its relationship to the disease activity in patients with inflammatory bowel diseases (IBD) - Crohn's disease (CD) and ulcerative colitis (UC). METHODS: Fifty-eight patients with active IBD (32 with CD and 26 with UC) and 25 healthy controls consented to participate in the study. The clinical activity of CD was estimated using the Crohn's Disease Activity Index (CDAI), and the endoscopic activity of UC using the Mayo scoring system. IP was assessed by the rise in levels of iohexol, which was administered orally (25 mL, 350 mg/mL) 2 h after breakfast. Three and six hours later serum (SIC mg/L) and urine (UIC g/mol) iohexol concentrations were determined by a validated HPLC-UV technique. RESULTS: In the CD group, SIC values at 3 h (2.95 ± 2.11 mg/L) and at 6 h after ingestion (2.63 ± 2.18 mg/L) were significantly higher compared to those of healthy subjects (1.25 ± 1.40 mg/L and 1.11 ± 1.10 mg/L, respectively, P < 0.05). UIC (g/mol) values were also higher in patients, but the differences were significant only for UIC at 6 h. Significant positive correlation (P < 0.05) was found between the CDAI and IP, assessed by SIC at 3 h (r = 0.60) and 6 h (r = 0.74) after the ingestion. In comparison to controls, SIC and UIC of UC patients were higher in the two studied periods, but the differences were significant at 6 h only. Significantly higher values of SIC (P < 0.05) were found in patients with severe endoscopic activity of UC compared to those of patients with mild and moderate activity (3.68 ± 3.18 vs 0.92 ± 0.69 mg/L). CONCLUSION: Serum levels of iohexol at 3 h and 6 h after its ingestion reflect increased IP, which is related to the disease activity in patients with IBD.