Jun 11, 2015 - Arabs, Armenians and Jews. ... Medicine (Baltimore). 2005 Jan ... There was a history of smoking in 23.7% of patients, intake of involved drugs.
Scientific Abstracts and Middle East. Mostly affected ethnical groups from the disease are Turks, Arabs, Armenians and Jews. Objectives: In this study it is aimed to evaluate the ratio of MEFV gene mutations in Turkish FMF patients Methods: Study plan were sent to FMF centers in Turkey and they were invited to the study. Fifteen centers among ten various geographic distributions accepted to be included in the study. Patients fullfilling diagnostic criteria of Tel – Hashomer or Sheba Medical Center for FMF were included to the study (Pras E-1998, Livneh A-1997).MEFV mutations were investigated by polymerase chain reaction and reverse hybridization assay (FMF StripAssay; Vienna Lab Labordiagnostika GmbH, Vienna Austria) or pyrosequencing technique (Qiagen). Results: MEFV gene mutations of 1719 Turkish FMF patients were evaluated. Most frequent MEFV mutation was homozygous M694V. M694V +/+ 24%, M694V allele was present in all of the most common 5 MEFV mutations. Respectively, M694V +/+ (24%), M694V +/- (17%), M694V/M680I (8.4%), M694V/V726A (7.3%), M694V/E148Q (5.3%).Instead of negativity of MEFV mutations in 154 of the patients (9%), patients were diagnosed as FMF according to the concordance of clinical findings. Conclusions: According to the results, M694V was the most frequently observed mutation in our study (allelic frequency= %43.05). It is followed by M680I (%11.2), V726A (%5.79) and E148Q (%4.17). These were in accordance with the former nationwide FMF study in Turkey. Especially M694V homozygous patients have higher risk for amyloidosis and arthritis. These patients should be followed up closely. The ratio of MEFV mutation negative patients were found high. The reasons can be other mutations or other diseases that cannot be recognized. References: [1] Onen F. Familial Mediterranean fever. Rheumatol Int. 2006 Apr; 26(6):489-496. [2] Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore). 2005 Jan; 84(1):1-11. Disclosure of Interest: None declared DOI: 10.1136/annrheumdis-2015-eular.2554
THU0571
ASSOCIATION OF MICROSCOPIC COLITIS WITH AUTOIMMUNE DISEASES IN A SERIES OF 97 CASES
W.A. Sifuentes Giraldo 1 , M. Llop Vilaltella 1 , C. Bouruncle Alaluna 1 , C. González-García 2 , E. Loza Santamaría 3 , J.L. Morell Hita 1 , A. López San Román 4 . 1 Rheumatology; 2 Pathology, University Hospital Ramon Y Cajal; 3 Instituto de Salud Musculoesquelética (InMusc); 4 Gastroenterology, University Hospital Ramon Y Cajal, Madrid, Spain Background: Microscopic colitis (MC) is an inflammatory condition of the colon characterised by chronic or intermittent diarrhoea with normal endoscopic appearance of the colonic mucosa. Its prevalence is estimated at 4-13% of patients with chronic diarrhoea and usually affects adults, with a mean age at diagnosis of 60.7 years. MC is traditionally divided into 2 histological subtypes, lymphocytic colitis [LC] (>15-20 intraepithelial lymphocytes per 100 enterocytes, with mixed inflammatory infiltrate in the lamina propia and normal crypt architecture) and collagenous colitis [CC] (presence of a thickened subepithelial collagen band and inflammatory changes similar to those of LC), although overlap between both may occur in up to 26%. Its etiology is unknown, but is often associated with systemic and organ-specific autoimmune diseases (AD) and the intake of drugs (NSAIDs, proton pump inhibitors, statins, selective serotonin re-uptake inhibitors and antiepileptics). Objectives: To analyse the clinical characteristics and association with AD in patients with MC at a Spanish tertiary hospital. Methods: We conducted a descriptive, retrospective study of patients with MC (biopsy-confirmed diagnosis) treated in our hospital between January 1999 and December 2014. The data were obtained by reviewing their medical records. Results: A total of 97 cases were included, with a median age at diagnosis being 66 years (range: 15-88) and a female:male ratio of 2.1:1. Among the types of MC, 63% corresponded to LC, 30% to CC and 7% to overlap of both. There was a history of smoking in 23.7% of patients, intake of involved drugs in 58.8% and previous intestinal infection in 3%. The most common symptoms were diarrhoea (94.8%), nocturnal stools (13.4%), defecation urgency (7.2%), abdominal pain (44.3%), weight loss (51.5%), nausea (17.5%), vomiting (12.4%) and asthenia (16.5%). The most common laboratory abnormalities were anaemia (9.2%) and increased levels of ESR and/or CRP (29%). There was associated AD in 28.9% of cases (systemic 8, organ-specific 20). The diagnoses of systemic AD found were: polymyalgia rheumatica (3), giant cell arteritis (1), rheumatoid arthritis (2), ankylosing spondylitis (1) and undifferentiated spondyloarthritis (1). Organ-specific AD found were: autoimmune thyroid disease (12), autoimmune polyglandular syndrome type III (1), celiac disease (2), multiple sclerosis (2), autoimmune cholangitis (1), and uveitis (1). The frequency of AD was higher in the CC (41.3%) compared to LC (24.5%), but this did not present statistically significant difference between these two (p=0.1043). AD preceded the diagnosis of MC in 19 cases, were concomitant in 2 and subsequently developed in 7. Conclusions: More than a quarter of cases of MC in our series had associated AD, being more frequent the autoimmune endocrinopathies, but also the inflammatory rheumatic diseases. A higher frequency of AD was found in CC than CL, similar to that reported in other series, but without significant difference. The knowledge of this entity by the rheumatologists is important as well as the communication with
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the gastroenterologists for early referral of the patients with MC and suspicion of these diseases. Disclosure of Interest: None declared DOI: 10.1136/annrheumdis-2015-eular.4319
THU0572
HETEROGENEITY OF IGG4-RELATED DISEASE IN TERMS OF ORGAN DAMAGE, TREATMENT RESPONSE AND PROGNOSIS
Y. Yamamura 1 , I. Matuura 2 , Y. Nomura 2 , K. Fujita 1 , N. Momoki 2 , A. Ueno 1 , K. Maruyama 2 , M. Hiramatu 2 , M. Yamamura 1 . 1 Center for Rheumatology; 2 Center for Nephrology, Okayama Saiseikai General Hospital, Okayama, Japan Background: IgG4-related disease (IgG4-RD) is characterized by IgG4 overproduction and various organ damage by IgG4-secreting plasma cells, but its long-term prognosis is unknown because of its new disease concept. Objectives: To determine long-term outcome of this chronic disease, we have prospectively observed patients who were newly diagnosed as IgG4-RD in our hospital since April 2011. Methods: A total of 33 patients, including 22 males and 11 females, were made a diagnosis as having IgG4-RD principally according to the 2011 Japanese comprehensive diagnostic criteria. The majority of them showed high concentrations of serum IgG4 (median 569mg/dL, range 140-2390 mg/dL), but only 8 patients were definite with IgG4+ cells >40% in the biopsy specimen. 16 patients showed IgG4+ cell tissue infiltration but failed to satisfy this histological definition. Nine patients who could not have biopsy were diagnosed by serum IgG >135 mg/dL plus diagnostic imaging. These patients have been prospectively followed up. Results: Patients were diagnosed as IgG4-RD at the average age of 71 (37-85) with the disease duration between 3 months and 9 years, showing various organ damage (salivary gland n=15, pancreas n=9, aorta/artery n=9, kidney n=9, retroperitoneum n=7, lacrimal gland n=6, thyroid gland n=6, lungs n=6, biliary duct n=4, prostate n=2, articulate n=1). 22 patients received immunosuppressive therapy because of major organ dysfunction, including periaortis (n=9), renal pseudotumor and interstitial nephritis (n=8), pancreatitis (n=8), retroperitoneal fibrosis (n=6), lung disease (n=5), thyroiditis (n=5), sclerosing cholangitis (n=3), and prostate swelling (n=2) (mostly overlapping). Glucocorticoids (GC) were first started with the average dose of 22.5 mg/day prednisolone (4 - 60mg/day), and immunesuppressants such as azathioprine (AZA) and methotrexate (MTX; switched from AZA due to hepatotoxicity) were later added in 11 patients (AZA for 11, MTX for 1) for disease relapse or GC tapering. All patients successfully responded to these therapy and subsequently, their IgG4RD have been mostly well controlled. The remaining 11 patients with minor organ damage (salivary gland lesion n=7, lacrimal gland lesion n=2, etc.) or contraindications to immunesuppression did not receive any treatment. While under observation, malignancies such as MALT lymphoma, lung cancer and colon cancer developed in 3 patients, one of whom died of lymphoma. In addition, 3 patients died of hemorrhage from duodenal ulcer, sepsis and aspiration pneumonia, respectively, in which the relationship to IgG4-RD or therapy were undetermined. Conclusions: The results indicate that patients with IgG4-RD are clinicopathologically heterogeneous depending on patient’s age at onset, organs affected and underlining pathogenesis, but their responses to GC and immunosuppressants are generally well and the disease itself are controllable in the short-term. Its longer-term control, prognosis and relationship to malignancy should be determined. Disclosure of Interest: None declared DOI: 10.1136/annrheumdis-2015-eular.6484 THURSDAY, 11 JUNE 2015
Education THU0573
DEVELOPMENT OF A PEDIATRIC RHEUMATOLOGY EDUCATION RESOURCE-SHARING WEBSITE: IF YOU BUILD IT, WILL THEY COME?
M. Curran 1 , R. Singh 2 . 1 Pediatrics, Northwestern University Feinberg School of Medicine; 2 Rheumatology, Lurie Children’s, Chicago, United States Background: Deficiencies in pediatric rheumatology teaching are well described in medical literature, necessitating innovative means for education. Currently, no websites exist to help training programs improve teaching. Objectives: The objectives of this project are 1) to create a user-friendly website providing support for educators by curating and sharing teaching materials and 2) to study site usage and effectiveness. An ongoing study aims to assist pediatric training programs in increasing the quality and quantity of rheumatology education. Methods: OuchMyLeg! (https://ouchmyleg.northwestern.edu) was designed using Drupal with security measures to protect user confidentiality. Research personnel verify that accounts belong to medical educators before approval. Users belong to either the PRIME community for practicing physicians (mainly pediatric rheumatologists) interested in medical education or the chief resident (CR) community for supervisors of pediatric training programs. Users may link to publicly available educational resources, upload personal instructional materials such as slide sets, documents and videos and download materials posted by
