Subject(s)
Humans , Male , Adult , Hemangioma, Cavernous/complications , Hemangioma, Cavernous/diagnosis , Hemangioma, Cavernous/surgery , /methods , Iron/therapeutic use , Capsule Endoscopy/methods , Capsule Endoscopy , Gastroscopy/methods , Hemangioma, Cavernous/physiopathology , Hemangioma, Cavernous , Ileal Neoplasms/complications , Ileal NeoplasmsABSTRACT
Crohn's disease (CD) presents a complex multifactorial etiology with genetic and environmental factors contributing to the disorder. Epidemiological studies have shown that three major CARD15 polymorphisms, R702W, G908R, and 1007fs, are associated with CD. We studied the frequencies of these three polymorphisms in patients from Toledo, Spain, and compared them with the frequencies found in studies of other populations. A total of 183 patients with CD and 172 healthy controls from Toledo, Spain, were included in this study. All of these individuals were genotyped for the three CARD15 polymorphisms R702W, G908R, and 1007fs. Frequencies were analyzed to identify any genotype-phenotype associations. The control population exhibited frequencies of CARD15 polymorphisms similar to the results of previous studies, 3.4%, 1.1%, and 2.0% for the R702W, G908R, and 1007fs polymorphisms, respectively, whereas CD patients had allele frequencies of 7.6%, 3.0%, and 4.6%, respectively. Significant associations were found between the presence of R702W and patients carrying two susceptibility variants with early age of onset and stricturing pattern.
Subject(s)
Crohn Disease/genetics , Gene Frequency , Nod2 Signaling Adaptor Protein/genetics , Phenotype , Polymorphism, Genetic , Adult , Amino Acid Substitution/genetics , Crohn Disease/epidemiology , Crohn Disease/physiopathology , Female , Genotype , Humans , Male , Spain/epidemiologyABSTRACT
INTRODUCTION: Capsule endoscopy (CE) can detect Crohn's disease in patients with suggestive symptoms but with negative results from the traditional diagnostic work-up (ileocolonoscopy and small bowel follow-through). The objective of this study was to determine which clinical features predict the diagnosis of Crohn's disease by CE in this subgroup of patients. MATERIAL AND METHODS: Twenty-three patients (7 men, 16 women; mean age: 40+/-15 y) with negative results from conventional imaging techniques were prospectively included in the study because of suspicion of Crohn's disease (long-standing abdominal pain and/or diarrhea and at least one of the following symptoms: anemia, weight loss, long-standing fever, perianal disease, extraintestinal manifestations typical of inflammatory bowel disease, elevated inflammatory parameters, or family history of inflammatory bowel disease). RESULTS: CE diagnosed Crohn's disease in 6 patients (26%). Crohn's disease diagnosis was more frequent in patients with a combination of anemia and elevated inflammatory parameters than in patients without this combination (57% vs. 12.5%; P=0.04). The only statistically significant association between an inflammatory parameter and Crohn's disease was an increased platelet count. CONCLUSIONS: CE is a useful tool for the diagnosis of subtle small bowel Crohn's disease. The diagnostic yield of CE in patients with suspicion of Crohn's disease but negative results from the traditional diagnostic work-up is significantly higher in patients with anemia and increased platelet count than in patients without this combination of clinical features.
