Challenges in the diagnosis of marginal zone lymphoma with symptoms of small intestinal disease: a case report and scoping review of the literature.

Background: Marginal zone lymphoma can be accompanied by symptoms of small intestinal disease including abdominal pain and malabsorption. However, the best diagnostic approach for suspected marginal zone lymphoma is unknown and intestinal biopsies are frequently negative. We describe the case of a patient with symptoms of small bowel involvement where marginal zone lymphoma could only be detected upon peripheral lymph node resection. To assess the clinical variability of intestinal marginal zone lymphoma as a rare clinical entity, a scoping review with systematic literature research was performed. Methods: A 57-year-old man presented with a 10-year history of postprandial abdominal pain, systemic inflammation and recent weight loss. Endoscopies and a surgical small bowel specimen revealed non-specific findings. Flow cytometry from the bone marrow was highly suspicious for marginal zone lymphoma. A 2-18F-fluorodeoxyglucose-positron emission tomography/computed tomography (2-18F-FDG-PET/CT) showed hypermetabolic lymph nodes on both sides of the diaphragm. Cervical lymph node dissection finally confirmed marginal zone lymphoma. Immunochemotherapy yielded lasting oncological remission and resolved symptoms. We searched PubMed, Embase and Ovid MEDLINE® for additional case reports limited to the last 25 years. Five primary search terms combined using "AND" were used freely and as controlled vocabulary. Additional studies were identified by reviewing the reference lists of included articles. Results: Our review revealed 52 cases of marginal zone lymphoma with small intestinal manifestation. Patients presented with abdominal pain, bowel obstruction, weight loss or gastrointestinal bleeding. Diagnosis was mainly established by surgery (73%). The most frequent endoscopic findings were mucosal erosions and ulcerations. A 2-18F-FDG-PET/CT was positive in 9/15 patients. Treatment included rituximab, chemotherapy, surgery and/or radiation resulting in clinical remission in 82% of cases. Conclusions: Diagnostic workup for suspected small intestinal marginal zone lymphoma is challenging, necessitating a multidisciplinary approach. Endoscopy, imaging including 2-18F-FDG-PET/CT and small bowel resection or dissection of hypermetabolic lymph nodes can be useful. If marginal zone lymphoma is suspected vigorous diagnostic efforts are justified since remission can be achieved in most patients. Our review highlights the variable clinical presentation of this underdiagnosed disease and adds systematic data to the literature.

[Investigations of Anorectal Function]. / Anorektale Funktionsdiagnostik.

Investigations of Anorectal Function Abstract. Investigations of anorectal function allows measurement of anal sphincter pressure, evaluation of rectal sensitivity and verification of rectoanal reflexes, which are essential elements in the assessment of bowel emptying. It is combined with a balloon expulsion test to ensure that the manometric findings are consistent with anorectal function. These tests are used in the diagnostic work-up of chronic defecation disorders, constipation and faecal incontinence, but can also provide clarification in the pre- and post-operative setting, for functional anorectal pain and other disorders of pelvic floor function. Most patients referred for investigation of these symptoms require a comprehensive assessment of anorectal structure and function. Because of the high variability of normal values and complexity of anorectal function, no single examination provides all the information needed to make a symptom-explaining, conclusive diagnosis and influence treatment decisions. Anorectal manometry is useful to assess the extent of impairment of anorectal function and to differentiate between organic and functional disorders (including pelvic floor dyssynergia). A preceding detailed anamnesis as well as endoscopic (procto / rectoscopy) and imaging procedures (anorectal endosonography, dynamic MR defecography) complete the diagnostic investigation instead.

Keratoconus with Central Serous Chorioretinopathy: A Rare Combination.

Keratoconus and central serous chorioretinopathy are two rare diseases. They can occur together in some individuals. We report a case of a 48-year-old man, who presented to our clinic with decreased visual acuity on his left eye. Physical examination, biomicroscopy, corneal topography, and optical coherence tomography revealed keratoconus and central serous chorioretinopathy. We discuss the possible connection between these two conditions.

Prevalence and pathogenesis of anemia in inflammatory bowel disease. Influence of anti-tumor necrosis factor-alpha treatment.

BACKGROUND: Anemia is a common complication of inflammatory bowel disease, but its epidemiology may be changing due to earlier diagnosis and improved treatments. We investigated the prevalence and pathogenesis of anemia in patients with inflammatory bowel disease. DESIGN AND METHODS: In a cross-sectional study 263 out-patients with inflammatory bowel disease (165 with Crohn's disease, 98 with ulcerative colitis) were investigated. The influence of time from diagnosis, disease activity, inflammation and the status of iron and hematinic vitamins on the level of hemoglobin and prevalence of anemia were evaluated. In a second group of 27 patients with Crohn's disease, undergoing anti-tumor necrosis factor-alpha treatment with infliximab because of refractory or fistulizing disease, we determined the effects of infliximab on disease activity, hemoglobin, serum erythropoietin levels, iron status and inflammation. RESULTS: In all, 104 of the 263 patients with inflammatory bowel disease were anemic. Age, gender and azathioprine treatment had no influence on anemia. The prevalence of anemia was highest at diagnosis (65%), decreased during the first 4 years after disease onset, and was stable thereafter. Active disease was associated with higher rates of anemia. At diagnosis most anemic patients had anemia of chronic disease; during follow-up iron deficiency and multifactorial forms of anemia became more prevalent. Eighteen of 27 patients undergoing treatment with infliximab were anemic; most of them had anemia of chronic disease. Infliximab reduced disease activity and improved anemia in 12 patients. This was mediated by an increased production of erythropoietin for the degree of anemia. In vitro infliximab increased the growth of erythroid progenitors from the peripheral blood of patients with active disease. Conclusions Anemia is a common problem in out-patients with inflammatory bowel disease; the prevalence and severity of anemia are related to the activity of the bowel disorder. The pathogenesis of anemia changes during the course of the disease, with anemia of chronic disease having a major role at diagnosis and iron deficiency and multifactorial forms of anemia during follow-up. In patients requiring anti-tumor necrosis factor-alpha treatment, response to therapy improves erythropoiesis.

Anemia of chronic disease and defective erythropoietin production in patients with celiac disease.

BACKGROUND: Anemia due to hematinic deficiencies is common in patients with untreated celiac disease. Although celiac disease is a chronic condition characterized by an intense inflammatory response of the intestinal mucosa, scant data are available about the prevalence of anemia of chronic disease in celiac disease. DESIGN AND METHODS: One hundred and fifty-two patients with celiac disease at presentation were studied. Anemia was investigated by determining complete blood counts, body iron status, serum levels of the soluble transferrin receptor, erythropoietin, prohepcidin and interferon-gamma. Genotyping for HFE mutations associated with hereditary hemochromatosis was performed. Fifty-three anemic patients were re-evaluated for hematologic response after 1 year on a gluten-free diet. RESULTS: At the time of diagnosis of celiac disease the prevalence of anemia was 34%. Fifty-three out of 65 anemic patients had either iron and/or vitamin deficiency (folate, vitamin B(12)). Hereditary hemochromatosis mutations did not affect the prevalence of anemia. In 11 cases iron status parameters were indicative of anemia of chronic disease, sometimes in association with iron deficiency (6 patients). Patients with anemia of chronic disease had low levels of erythropoietin for the degree of anemia and increased serum interferon-gamma. In most cases anemia improved following a gluten-free diet, response rates being similar in anemia of chronic disease and in anemia due to hematinic deficiencies. CONCLUSIONS: Our study shows that, in addition to iron and vitamin deficiencies, anemia of chronic disease has a significant role in some patients with celiac disease. Suppression of intestinal inflammatory changes as a result of a gluten-free diet improves anemia by correcting iron and vitamin malabsorption as well as mechanisms contributing to anemia of chronic disease.