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Background: A North-South gradient in Crohn’s disease (CD) implying a higher incidence in northern Europe compared to southern Europe has been established. Aims: To investigate whether there is a difference between Denmark and Portugal in the frequency of CARD15 mutations in CD patients compared to a healthy background population and to compare genotype-phenotype relations in the two countries. Methods: 58 Danish patients and 29 Portuguese patients with CD were matched for age, sex and disease behaviour at time of diagnosis and compared with 200 healthy Danish and Portuguese controls. Phenotypes were recorded at year of diagnosis, 3 years after diagnosis and at end of follow-up. Patients were genotyped for Arg702Trp, Gly908Arg and Leu1007InsC. Results: 22% of the Danish patients vs. 9% of Danish controls compared to 21% of the Portuguese patients vs. 16% had at least one mutation. Mutation rates in Danish patients were significantly different (p = 0.02) compared with Danish controls, no difference (p = 0.51) was found between Portuguese patients and controls. However, a possible relationship between CD and presence of genetic mutations was found when comparing the two countries (p = 0.03) using the Mantel-Haenszel test. No difference in evolution of phenotypes and the CARD15 status in CD was found during follow-up between the two matched populations. Ileal disease correlated to high occurrence of CARD15. Conclusion: No North-South gradient regarding occurrence of CARD15 was revealed. Although a trend towards more mutations in the Portuguese controls was seen, a relationship between CD and CARD15 mutations was observed in both countries.

Background/Aims: Familial Crohn’s disease has shown concordance concerning location and clinical type of the disease especially among monozygotic twins. Susceptibility to Crohn’s disease is both based on genetic and environmental factors. We investigated polymorphisms of CARD15, TLR4, and OCTN, and environmental factors in a monozygotic twin pair with Crohn’s disease and their first-degree relatives. Methods: 22-year-old monozygotic female twins with ileocolonic Crohn’s disease and their healthy brother and parents were examined. DNA samples from patients and relatives were genotyped for CARD15, TLR4,and OCTN polymorphisms. ASCA and p-ANCA analyses were performed. Additionally, patients and relatives filled out a questionnaire concerning multiple environmental factors. Results: Both twins presented in the same year with identical Vienna Classification phenotypes: stenotic behavior (B2) and localization in terminal ileum and colon (L3). Both carried a CARD15 R702W variant, but had normal alleles in TLR4 and OCTN. They were smokers since the age of 15, used oral contraceptives and had undergone appendectomy. The healthy father and brother were CARD15 R702W positive, were non-smokers and had not undergone appendectomy. Conclusion: This case report is the first to describe complete concordance in CARD15 status, phenotypic appearance, and smoking, appendectomy and oral contraceptive use in a pair of monozygotic twins with CD.

Background/Aims: Sweet’s syndrome (SS) is a severe dermatosis that may be an extraintestinal manifestation of inflammatory bowel disease (IBD). Worldwide, 35 cases of SS associated with IBD have been reported. We present the first case of severe, recurrent SS in combination with amebic infection and ulcerative colitis complicated with multiple other extraintestinal manifestations. Methods: Disease course was monitored by serum YKL-40 and C-reactive protein (CRP), white blood cell count, albumin and the Simple Clinical Colitis Activity Index (SSCAI). The amebic infection was diagnosed by direct microscopy of wet mount scrapings sampled by repetitive sigmoidoscopies. Results: The patient was diagnosed with left-sided ulcerative colitis and SS combined with extraintestinal manifestations: arthropathies, iridocyclitis and erythema nodosum. Cysts of Entamoeba histolytica were detected in the stools in two separate periods of time. Serum YKL-40 increased prior to CRP and correlated with disease activity, SCCAI, CRP, white blood cell count and inversely with serum albumin. Conclusion: This case gives further support for SS being an extraintestinal manifestation of ulcerative colitis. YKL-40 may be useful in monitoring the disease course of IBD.