Our data suggest IBD patients do not receive preventive services at the same rate as general medical patients. Preventive care is a facet of global IBD management that deserves further study.
Our study suggests that family medicine practitioners often do not feel comfortable providing care to IBD patients. Lack of familiarity with IBD medications may be a key factor.
Limited data exist on the specific association between gastroduodenal Crohn's disease (GDCD) and NOD2/CARD15 gene polymorphisms. The aim of this study was to assess the association between NOD2 polymorphisms and GDCD, and to assess the specific association between each of the 3 major allelic variants G908R, L1007P, and R702W and the clinical features of Crohn's disease. We retrospectively reviewed the records of 202 patients with confirmed Crohn's disease and complete data was performed. Seventy-one patients (35%) had at least 1 allelic variant: 55 had 1 variant, 4 were homozygous for L1007fs, 2 homozygous for R702W, and 10 were compound heterozygous. Eighteen patients with confirmed GDCD were identified; 10 (56%) had wild type, 4 (22%) had 1 variant, and 4 (22%) had 2 allelic variants (2 were L1007P homozygous and 2 compound heterozygous). Compared to patients without gastroduodenal involvement, those with GDCD were more likely to have 2 allelic variants (22% vs. 6%; odds ratio [OR] 2.7; 95% confidence interval [CI] 1.6-7.3) and to be homozygous for L1007P (11% vs. 1%; OR 5.2; 95% CI 2.5-9.4). G908R heterozygosity was associated with ileal involvement (OR 1.4; 95% CI 1.1-2.9) and smoking habits (OR 2.4; 95% CI 1.2-3.8), whereas L1007P homozygosity was associated with GDCD (OR 5.8; 95% CI 2.6-10.8). L1007P variation was associated with younger age at diagnosis as well. There was no specific association between R702W homo- or heterozygosity and any of the characteristics examined. In conclusion, GDCD is associated with double dose of the NOD2/CARD15 gene variants, particularly L1007P homozygosity. There is evidence of specific variant-phenotype associations. G908R heterozygosity is associated with ileal involvement and smoking, whereas L1007P homozygosity is strongly associated with GDCD and younger age at diagnosis.
KEY WORDS: bullous pemphigoid; ulcerative colitis.Bullous pemphigoid (BP) is an uncommon blistering skin disease, mainly affecting the elderly and often described in association with other autoimmune disorders (1-5). It has rarely been reported in association with IBD (2, 6-8). We report two patients with ulcerative colitis (UC) who developed BP at an age younger than that of the typical BP patient. Given the rarity of BP and the immune dysregulation common to both UC and BP, namely, a Th2 antibody response, we postulate a casual association of these disorders. Furthermore, BP could be considered an extraintestinal manifestation of IBD. CASE REPORTSPatient 1. This patient was originally from Iran but has lived in the United States for 11 years. He was diagnosed with leftsided UC at age 38. Immune modulators were required to control his bowel disease, but since he developed an adverse reaction to azathioprine, he was maintained on oral and topical 5-ASA medications. While on this regimen he reported 3-4 stools/day and occasional blood, muscus, and tenesmus.At age 41 he complained of pruritus of the knees and fragility of the skin on the dorsum of his hands. Physical exam revealed lichenified plaques containing small tense vesicles. Marked fragility of the skin and onycholysis were also noted. Mucous membrane involvement was absent.Direct IF of a punch skin biopsy revealed a thin linear IgG deposition in the basement membrane zone (BMZ) Figure 1). Indirect IF of salt-split skin showed circulating IgG anti-BMZ antibodies binding to the epidermal side of the specimen, confirming the diagnosis of BP.Topical high-potency steroids did not control his symptoms. Mycophenolate mofetil (MMF) was started at 2 g/day, with improvement of both skin and bowel symptoms. After several Manuscript . months, the MMF was increased to 3 g/day for better control of oncycholysis.Patient 2. This patient presented with UC pancolitis at age 22 and was diagnosed with primary sclerosing cholangitis (PSC) at age 40.The patient had a long history of dermatologic symptoms. At age 11 he was treated for a blistering skin rash of unknown etiology. At age 22 he was diagnosed with a transient vesiculo-erosive stomatitis. At age 43 he complained of blisters on his legs and was diagnosed with folliculitis and furunculosis. Improvement followed treatment with topical mupirocin and cephalexin.At age 45 the patient was diagnosed with BP when he presented with painful bullae on the legs, palms, and torso which were precipitated by minimal skin trauma. His medications at that time were mesalamine, prednisone, and ursodiol, none of which had been initiated recently. Examination revealed small areas of desquamation of the palms and erythematous patches with bullae and peripheral scale on the torso and legs.Biopsy revealed a subepidermal blister with a sparse, mixed inflammatory infiltrate, consistent with a subepidermal blistering disorder such as BP (Figure 2).Biopsies from the oral lesions which developed at age 22 were reviewed in light of his recently dia...
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