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1.
Eur J Intern Med ; 111: 77-81, 2023 05.
Article in English | MEDLINE | ID: mdl-36822892

ABSTRACT

INTRODUCTION: Whipple's disease is a rare systemic infection due to an impaired immunological response against T. whipplei in genetically predisposed individuals. Since we previously noted development of H. pylori related complications in some patients with Whipple's disease, our aim was to study the prevalence of H. pylori infection and H. pylori related disorders in Whipple's disease. METHODS: Whipple's disease patients diagnosed from Jan-2002 to Dec-2021 and two controls per patient, matched for age, gender, ethnicity and year of H. pylori testing were enrolled. RESULTS: 34 patients with Whipple's disease and 68 controls were enrolled. H. pylori infection (13/34 vs 8/68, p<0.01), H. pylori-related gastritis (p<0.01) and gastric atrophy (p = 0.01) were significantly more common in patients with Whipple's disease than controls. H. pylori infection and Whipple's disease were diagnosed synchronously in 6/13 patients, and during follow-up in the remaining 7. Interestingly, these last 7 patients were all on trimethoprim-sulfamethoxazole long-term therapy. Two patients developed H. pylori-related gastric malignancies during follow-up. No patients on doxycycline developed H. pylori infection. CONCLUSIONS: H. pylori infection and related disorders are common in patients with Whipple's disease and should always be excluded both at time of diagnosis and during follow-up. These findings should be taken into account when selecting antibiotics for Whipple's disease long-term prophylaxis.


Subject(s)
Helicobacter Infections , Helicobacter pylori , Whipple Disease , Humans , Whipple Disease/drug therapy , Whipple Disease/epidemiology , Whipple Disease/complications , Prevalence , Helicobacter Infections/drug therapy , Helicobacter Infections/epidemiology , Helicobacter Infections/complications , Anti-Bacterial Agents/therapeutic use
2.
Dig Liver Dis ; 52(5): 547-554, 2020 05.
Article in English | MEDLINE | ID: mdl-32122771

ABSTRACT

INTRODUCTION: A prospective survey to evaluate the diagnostic workup of cystic pancreatic neoplasms (CPNs) according to the Italian guidelines. METHODS: An online data sheet was built. RESULTS: Fifteen of the 1385 patients (1.1%) had non cystic neoplastic lesions. Forty percent (518/1295) had at least one 1st degree relative affected by a solid tumor of the digestive and extra-digestive organs. Symptoms/signs associated with the cystic lesion were present in 24.5% of the patients. The cysts were localized in the head of the pancreas in 38.5% of patients. Of the 2370 examinations (1.7 examinations per patient) which were carried out for the diagnosis, magnetic resonance imaging was performed as a single test in 48.4% of patients and in combination with endoscopic ultrasound in 27% of the cases. Of the 1370 patients having CPNs, 89.9% had an intraductal papillary mucinous neoplasm (IPMN) (70.1% a branch duct IPMN, 6.2% a mixed type IPMN and 4.6% a main duct IPMN), 12.7% had a serous cystadenoma, 2.8% a mucinous cystadenoma, 1.5% a non-functioning cystic neuroendocrine neoplasm, 0.7% a solid-pseudopapillary cystic neoplasm, 0.3% a cystic adenocarcinoma, and 1.2% an undetermined cystic neoplasm. Seventy-eight (5.7%) patients were operated upon after the initial work-up. CONCLUSIONS: This prospective study offers a reliable real-life picture of the diagnostic work-up CPN.


Subject(s)
Cystadenoma, Mucinous/epidemiology , Cystadenoma, Serous/epidemiology , Pancreas/diagnostic imaging , Pancreas/pathology , Pancreatic Neoplasms/epidemiology , Adenocarcinoma/epidemiology , Adolescent , Adult , Aged , Aged, 80 and over , Endosonography , Female , Humans , Italy/epidemiology , Magnetic Resonance Imaging , Male , Middle Aged , Neuroendocrine Tumors/epidemiology , Practice Guidelines as Topic , Prospective Studies , Surveys and Questionnaires , Young Adult
3.
Intern Emerg Med ; 13(7): 1121-1126, 2018 Oct.
Article in English | MEDLINE | ID: mdl-29982876

ABSTRACT

Pocket-size ultrasound devices (PSUD) are now widely available becoming a useful tool for diagnostic and therapeutic purposes. We aim to investigate the accuracy of PSUD in diagnosing cholelithiasis as compared to traditional ultrasonography. Moreover, we tested the reliability of PSUD when performed by inexperienced internal medicine residents after a short-term training. We consecutively enrolled inpatients and outpatients referred to undergo abdominal ultrasonography for signs or symptoms of gallbladder diseases in two different hospitals. Every patient underwent two independent examinations with PSUD by both expert (EXPPSUD) and nonexpert operators (N-EXPPSUD), and a conventional examination with traditional abdominal ultrasound (AUS). Every naive operator underwent a short-term training with a 2-h theoretical lesson, and a practical training focused on gallbladder under expert operator supervision. Overall, 146 patients were consecutively enrolled. Considering conventional AUS as the reference standard, sensitivity and specificity of EXPPSUD were, respectively, 93.75 and 100%. Sensitivity and specificity of N-EXPPSUD were, respectively, 75 and 91.25%. Nevertheless, when considering outpatients, PSUD has a high diagnostic accuracy even when performed by N-EXPPSUD with sensitivity of 93% and specificity of 88%. PSUD is a reliable tool for the diagnosis of cholelithiasis when used by expert operators potentially reducing the need for further diagnostic tests. It can even be successfully used by non-expert operators in outpatients setting after a short focussed training.


Subject(s)
Cholelithiasis/diagnosis , Point-of-Care Systems/standards , Ultrasonography/instrumentation , Aged , Cholelithiasis/diagnostic imaging , Education, Medical, Continuing/methods , Female , Humans , Male , Middle Aged , Physical Examination/instrumentation , Physical Examination/methods , Reproducibility of Results , Sensitivity and Specificity , Teaching/standards , Ultrasonography/methods
4.
Eur J Gastroenterol Hepatol ; 29(5): 572-576, 2017 May.
Article in English | MEDLINE | ID: mdl-28350748

ABSTRACT

OBJECTIVE: Villous atrophy (VA) of the small bowel is mainly related to coeliac disease (CD), whose diagnosis is made on the basis of positive endomysial/tissue transglutaminase antibodies while on a gluten-containing diet in the vast majority of patients. However, VA can also occur in other conditions whose epidemiology is little known. Our aim was to study the epidemiology and clinical features of these rare enteropathies. PATIENTS AND METHODS: Clinical and laboratory data of all the patients with VA directly diagnosed in our centre in the last 15 years were collected and statistically analysed. RESULTS: Between September 1999 and June 2015, 274 patients were diagnosed with VA. A total of 260 patients were also positive to coeliac antibodies; the other 14 had VA, but no IgA endomysial antibodies: five had common variable immunodeficiency, three had dermatitis herpetiformis, two had IgA deficiency associated with CD, one had abdominal lymphoma, one had unclassified sprue, one had olmesartan-associated enteropathy and one had seronegative CD. Mortality was 6.0 deaths per 100 person years (95% confidence interval: 2.2-16) in patients with VA but negative coeliac antibodies, whereas only 0.2 deaths per 100 person years (95% confidence interval: 0.1-0.6) occurred in coeliac patients. CONCLUSION: Patients with VA and negative endomysial antibodies are rare. However, these forms of VA identify specific causes that can be diagnosed. These patients are affected by a very high mortality.


Subject(s)
Celiac Disease/diagnosis , Intestinal Mucosa/pathology , Intestine, Small/pathology , Adolescent , Adult , Aged , Atrophy/etiology , Atrophy/mortality , Atrophy/pathology , Autoantibodies/blood , Biomarkers/blood , Biopsy , Celiac Disease/complications , Celiac Disease/mortality , Common Variable Immunodeficiency/complications , Common Variable Immunodeficiency/diagnosis , Common Variable Immunodeficiency/mortality , Diagnosis, Differential , False Negative Reactions , Female , GTP-Binding Proteins/immunology , Humans , Immunoglobulin A/blood , Italy/epidemiology , Kaplan-Meier Estimate , Male , Middle Aged , Protein Glutamine gamma Glutamyltransferase 2 , Retrospective Studies , Transglutaminases/immunology , Young Adult
5.
J Clin Pathol ; 69(12): 1051-1054, 2016 Dec.
Article in English | MEDLINE | ID: mdl-27147699

ABSTRACT

AIMS: The utility of the 7 level Marsh-Oberhuber classification of mucosal damage in patients with coeliac disease has recently been criticised. Analysis of duodenal biopsies with dissecting microscopy is an unsophisticated method that, however, provides useful information in cases of frank villous atrophy. In the last 15 years, we have always analysed duodenal biopsies with dissecting microscopy before sending them to the pathology department for histology. If the results of dissecting microscopy and traditional histology were comparable, we feel that would be strong evidence that grading of the histological lesion would be unnecessary if not pointless in the everyday diagnosis of enteropathies. METHODS: The clinical notes of all 2075 patients undergoing duodenal biopsy between September 1999 and June 2015 were retrospectively analysed. Results of duodenal mucosal evaluation with both dissecting microscopy and traditional histology were collected and statistically compared. RESULTS: The κ statistics showed a substantial agreement of the two methods (κ statistics 0.78). Sensitivity of dissecting microscopy for detection of severe villous atrophy was 85.1% (95% CI 81.2% to 88.5%) and specificity was 95% (95% CI 93.8% to 96%). CONCLUSIONS: Although dissecting microscopy is an unsophisticated method that obviously cannot substitute traditional histology, our results suggest that in everyday clinical practice, the diagnosis of coeliac disease and other flat enteropathies does not require grading of villous atrophy.


Subject(s)
Celiac Disease/diagnosis , Duodenum/pathology , Adult , Atrophy/classification , Atrophy/diagnosis , Biopsy , Celiac Disease/classification , Female , Humans , Intestinal Mucosa/pathology , Male , Middle Aged , Retrospective Studies , Sensitivity and Specificity , Tissue Array Analysis
6.
Ann Med ; 46(6): 430-3, 2014 Sep.
Article in English | MEDLINE | ID: mdl-24857202

ABSTRACT

INTRODUCTION: Coeliac disease is a chronic enteropathy requiring a close follow-up. However, the best way to follow up coeliac patients has not yet been established. In the last 14 years, we have been offering patients a thorough series of periodical examinations including a histological re-evaluation at 12-18 months. PATIENTS AND METHODS: The notes of all coeliac patients attending our clinic between September 1999 and March 2013 were examined. RESULTS: Data from 317 adult patients were collected. Duodenal biopsy showed a lack of satisfactory histological response in 25/317 patients; endomysial antibodies were still positive in 76, and diet adherence and clinical response were unsatisfactory in 58 and 97, respectively. Correlations of serological data, clinical response, and diet adherence with histological findings were evaluated. Although the P values showed statistically significant differences, sensitivity and specificity were disappointing: 64% and 80% for serological response, 48% and 71% for clinical response, 56% and 85% for diet adherence. CONCLUSIONS: After 12-18 months on a gluten-free diet, 8% of the patients do not present a satisfactory histological response; only some of them could have been identified with a serological and/or clinical re-evaluation. Therefore, a duodenal biopsy seems to be the only tool that could identify patients with unsatisfactory histological response.


Subject(s)
Celiac Disease/pathology , Duodenum/pathology , Adult , Biopsy/methods , Celiac Disease/diagnosis , Celiac Disease/diet therapy , Diet, Gluten-Free , Female , Humans , Male , Patient Compliance , Treatment Outcome
7.
Eur J Intern Med ; 24(8): 832-4, 2013 Dec.
Article in English | MEDLINE | ID: mdl-23571066

ABSTRACT

BACKGROUND: Coeliac disease is a condition characterized by a wide spectrum of clinical manifestations. Any organ can be affected and, among others, dental enamel defects have been described. Our aims were to study the prevalence of dental enamel defects in adults with coeliac disease and to investigate a correlation between the grade of teeth lesion and clinical parameters present at the time of diagnosis of coeliac disease. METHODS: A dental examination was performed in 54 coeliac disease patients (41 F, mean age 37 ± 13 years, mean age at diagnosis 31 ± 14 years). Symptoms leading to diagnosis were diarrhoea/weight loss (32 pts.), anaemia (19 pts.), familiarity (3 pts.); none of the patients was diagnosed because of enamel defects. At the time of evaluation, they were all on a gluten-free diet. Enamel defects were classified from grade 0 to 4 according to its severity. RESULTS: Enamel defects were observed in 46/54 patients (85.2%): grade 1 defects were seen in 18 patients (33.3%) grade 2 in 16 (29.6%), grade 3 in 8 (14.8%), and grade 4 in 4 (7.4%). We also observed that grades 3 and 4 were more frequent in patients diagnosed with classical rather than non-classical coeliac disease (10/32 vs. 2/20). However, this was not statistically significant. CONCLUSION: This study confirms that enamel defects are common in adult coeliac disease. Observation of enamel defects is an opportunity to diagnose coeliac disease.


Subject(s)
Celiac Disease/complications , Dental Enamel/pathology , Tooth Diseases/etiology , Adult , Female , Humans , Male , Middle Aged , Severity of Illness Index , Tooth Diseases/pathology , Young Adult
8.
Scand J Gastroenterol ; 48(5): 537-42, 2013 May.
Article in English | MEDLINE | ID: mdl-23506211

ABSTRACT

OBJECTIVE: Potential celiac disease (PCD) is a form of CD characterized by positive endomysial/tissue transglutaminase antibodies and a preserved duodenal mucosa despite a gluten-containing diet (GCD); it can evolve into flat, active CD. This evolution is, however, not certain. Our aim was to retrospectively study the prevalence and the natural history of adult patients with PCD. METHODS: The clinical notes of all 47 patients with PCD attending our clinic between September 1999 and October 2011 were retrospectively reevaluated. To study their clinical features, patients with active CD, randomly selected and matched for sex and date of birth, served as controls. Symptoms, associated diseases, familiarity, and laboratory data at diagnosis were compared. RESULTS: Prevalence of PCD among all celiac patients directly diagnosed in our center was 42/187, (1/4.4, 18.3%, 95% confidence interval (CI) 13.3-23.4%). Age at diagnosis, laboratory data, prevalence of symptoms, associated diseases, and familiarity for CD did not differ between patients with PCD and those with active CD. Some patients with PCD maintained a normal duodenal mucosa for many years and their symptoms spontaneously improved despite maintaining a GCD. CONCLUSIONS: PCD is not a rare form of CD. Having found no difference at all in age at diagnosis and clinical features between PCD and active CD could suggest that PCD is not a prodrome of CD but is a separate entity that can only subsequently evolve into active CD.


Subject(s)
Asymptomatic Diseases/epidemiology , Celiac Disease/epidemiology , Disease Progression , Adult , Case-Control Studies , Celiac Disease/diagnosis , Celiac Disease/diet therapy , Celiac Disease/pathology , Diet, Gluten-Free , Female , Follow-Up Studies , Humans , Italy/epidemiology , Male , Middle Aged , Prevalence , Retrospective Studies , Young Adult
9.
Eur J Intern Med ; 24(1): 87-91, 2013 Jan.
Article in English | MEDLINE | ID: mdl-23102568

ABSTRACT

BACKGROUND: Coeliac disease (CD) is a chronic condition requiring a gluten-free diet, which is a very demanding diet to maintain on a life-long basis. For this reason it is a condition that can have serious repercussions on the quality of life (QOL). Therefore the need to elaborate a questionnaire on QOL specifically for patients with CD (CDQ): its original language is German, and the translation/validation process represents a considerable challenge involving not only a translation into Italian but also an adaptation to the country's specific cultural differences. METHODS: The questionnaire has been translated according to a "German → Italian → Italian → German" algorithm with reconciliation of the differences. Scores for CDQ are computed overall and over four areas of four items each: emotion, gastrointestinal symptoms, gastrointestinal worries, social problems. RESULTS: CDQ was administered to 171 coeliacs (F 132, mean age 38 yrs ± 14). Completeness was optimal. Item internal consistency was satisfied for 100% and 97% of patients for the specific and generic part, respectively. Cronbach's α coefficient was 0.7 for all scales. The general CDQ was higher in patients reporting subjective well-being (discriminant validity). CONCLUSIONS: The Italian translation of CDQ sounds natural, is easy to understand and reduces possible cultural biases to a minimum. A field test gave results comparable to the original validation, supporting the use of CDQ in cross-national surveys.


Subject(s)
Celiac Disease , Quality of Life , Surveys and Questionnaires , Adult , Celiac Disease/diagnosis , Cultural Characteristics , Female , Humans , Language , Male , Translations
10.
Dig Liver Dis ; 44(10): 880-2, 2012 Oct.
Article in English | MEDLINE | ID: mdl-22704397

ABSTRACT

INTRODUCTION: Whipple's disease is a rare chronic infection caused by Tropheryma whipplei. Although most patients respond to antibiotics, in some of them the start of the treatment is followed by recurrence of inflammation. Since polymerase chain reaction is negative for Tropheryma whipplei, this reinflammation cannot be a relapse of Whipple's disease itself. Very recently, it has been recognised as a complication of Whipple's disease and defined immune reconstitution inflammatory syndrome (IRIS). Our aim is to study the prevalence and the clinical features of IRIS in Italian patients with Whipple's disease. METHODS: Evidence of IRIS was retrospectively revaluated in the clinical notes of 22 patients with Whipple's disease. Patients with no evidence of IRIS served as controls for the clinical findings. RESULTS: Recurrence of arthralgia and/or fever allowed a diagnosis of IRIS in 5/22 patients. One patient died. Previous immunosuppressive therapy was found in all patients with IRIS but only in 7/17 controls (Fisher test, p=0.039). Age at diagnosis and diagnostic delay were higher in patients with IRIS compared to controls. However, statistical significance was not reached. CONCLUSIONS: IRIS is a frequent complication of Whipple's disease and it can be fatal. The risk of IRIS is greatly increased in patients previously treated with immunosuppressive therapy.


Subject(s)
Immune Reconstitution Inflammatory Syndrome/etiology , Immunosuppressive Agents/adverse effects , Tropheryma , Whipple Disease/complications , Female , Humans , Immunosuppressive Agents/therapeutic use , Male , Polymerase Chain Reaction , Retrospective Studies , Risk Factors , Tropheryma/isolation & purification , Whipple Disease/drug therapy
11.
Clin Gastroenterol Hepatol ; 10(7): 812-4, 2012 Jul.
Article in English | MEDLINE | ID: mdl-22387252

ABSTRACT

BACKGROUND & AIMS: Autoimmune atrophic gastritis (AIG) is characterized by immune-mediated chronic inflammation of the gastric body and fundus, leading to hypo-achlorhydria and vitamin B12 deficiency. We analyzed the clinical features of AIG and sought to identify factors that might be used in diagnosis. METHODS: We collected and analyzed clinical data from 99 consecutive patients (age, 59 ± 17 y) who were diagnosed with AIG, based on histologic factors and the presence of autoantibodies against gastric parietal cells. RESULTS: Clinical factors that led to a diagnosis of AIG included hematologic findings related to vitamin B12 deficiency (n = 37), incidental histologic evidence in gastric biopsy specimens (n = 34), immune disorders (n = 18; 9 were celiac disease), neurologic symptoms (n = 6), and a family history of AIG (n = 4). CONCLUSIONS: Based on an analysis of 99 consecutive patients with AIG, this disorder is not solely a condition of the elderly. Other features to look for in making a diagnosis of AIG include vitamin B12 deficiency, histologic factors, and immune disorders.


Subject(s)
Autoimmune Diseases/diagnosis , Autoimmune Diseases/pathology , Gastritis, Atrophic/diagnosis , Gastritis, Atrophic/pathology , Adolescent , Adult , Aged , Aged, 80 and over , Autoantibodies/blood , Autoimmune Diseases/complications , Biopsy , Gastritis, Atrophic/complications , Histocytochemistry , Humans , Male , Middle Aged , Parietal Cells, Gastric/immunology , Vitamin B 12/blood , Vitamin B 12 Deficiency/diagnosis , Young Adult
12.
Br J Nutr ; 108(10): 1884-8, 2012 Nov 28.
Article in English | MEDLINE | ID: mdl-22321199

ABSTRACT

A dietary interview performed by expert personnel is the best method to check whether patients with coeliac disease follow a strict gluten-free diet (GFD). We previously developed a score based on four fast and simple questions that can be administered even by non-expert personnel. The aim of the present study is to verify the reliability of our questionnaire in a new cohort of patients. The questionnaire has a five-level score. From March 2008 to January 2011, the questionnaire was administered to 141 coeliac patients on a GFD, who were undergoing re-evaluation. The score obtained was compared with persistence of both villous atrophy and endomysial antibodies (EMA). The rate of lower scores was higher among the patients with persistence of either villous atrophy (Fisher's exact, P < 0·001; test for trend, P < 0·001) or positive EMA (Fisher's exact, P = 0·001; test for trend, P = 0·018). Given that the coeliac patients have been well instructed on what a GFD means and on how to follow it, our questionnaire is a reliable and simple method to verify compliance to a GFD.


Subject(s)
Antibodies/blood , Celiac Disease/diet therapy , Celiac Disease/pathology , Diet, Gluten-Free , Intestines/pathology , Adult , Celiac Disease/blood , Cohort Studies , Female , Humans , Male , Middle Aged , Models, Biological , Reproducibility of Results , Surveys and Questionnaires , Young Adult
13.
J Clin Gastroenterol ; 46(1): 46-50, 2012 Jan.
Article in English | MEDLINE | ID: mdl-21694611

ABSTRACT

BACKGROUND: HLA-DQB1*02 homozygosity was shown to be more common in patients with complicated rather than uncomplicated celiac disease (CD). GOALS: To study HLA-DQA1 and DQB1 profile in adult patients with different forms of CD, including patients with complicated and potential CD, the most affected and the most preserved histologic end of the pathologic celiac spectrum. STUDY: HLA-DQA1 and DQB1 molecular typing was performed in 218 adult CD patients (169 with uncomplicated CD, 27 with complicated CD, and 22 with potential CD) and 224 healthy stem cell donors. HLA-DQA1 and DQB1 gene polymorphism was analyzed using polymerase chain reaction sequence-specific primers and/or reverse polymerase chain reaction sequence-specific oligonucleotides techniques. RESULTS: As expected, the frequency of HLA-DQB1*02 allele, DQB1*02 homozygosity, and DQB1*0302 gene were statistically different in the 4 groups. However, multivariate analysis demonstrated that patients with potential CD have a higher frequency of both HLA-DQB1*0302 and HLA-DQB1*0603 alleles and a reduced frequency of DQB1*02 homozygosity compared with patients with uncomplicated and complicated CD. CONCLUSIONS: The increased frequency of DQB1*0302 and the reduced frequency of DQB1*02 homozygosity in potential CD is consistent with the idea that different clinical/pathologic evolutions might be related to different immunogeneses. This could be clinically relevant in the future.


Subject(s)
Celiac Disease/genetics , HLA-DQ alpha-Chains/genetics , HLA-DQ beta-Chains/genetics , Adolescent , Adult , Alleles , Celiac Disease/physiopathology , Female , Gene Frequency , Genetic Predisposition to Disease , HLA-DQ Antigens/genetics , Homozygote , Humans , Male , Middle Aged , Molecular Typing , Multivariate Analysis , Polymerase Chain Reaction/methods , Polymorphism, Genetic , Retrospective Studies , Severity of Illness Index , Young Adult
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