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Published in Andrew Schofield, Paul Schofield, The Complete SAQ Study Guide, 2019
Andrew Schofield, Paul Schofield
Osteoarthritis, psoriatic arthritis, reactive arthritis, Reiter’s syndrome, SLE, viral infections (e.g. parvovirus B19), enteropathic arthropathy, endocarditis, systemic conditions (e.g. haemochromatosis, sickle-cell anaemia, malignancy). (1 mark for each, max 3 marks)
‘Can you touch your toes?’ spondyloarthropathies and acute anterior uveitis for primary eyecare practitioners
Published in Clinical and Experimental Optometry, 2022
SpAs, and AS in particular, are polygenic but the most significant association is with the Major Histocompatibility Complex (MHC),9,10 in particular the Class I Human Leukocyte Antigen molecule HLA-B27. MHC and HLA are key elements of the immune defence of the body against infection. Inappropriate activation of an HLA receptor may explain auto-immune reactions, of which AS and AAU are examples. The link between AS and HLA-B27 was first identified in 1973.11 HLA-B27 positivity was soon shown to be related to reactive arthritis, psoriatic arthritis and enteropathic arthropathy (inflammatory bowel diseases) as well. AAU similarly is strongly associated with HLA-B2710,12 and the mutual association between AAU and the SpAs remains a very active area of immunological research for uveitis specialists.
Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicine
Published in Autoimmunity, 2019
Qingping Yao, Ellen Li, Bo Shen
The prevalence of CD is 26 to 199 per 100,000 people in North America [41]. Up to 40% of patients with CD possess at least one NOD2 variant, commonly 1007fs, G908R and R702W [31]. It is worthy to note that CD has been associated with other genetic variants as well [42]. Herein, we focus on CD patients with the three common NOD2 variants, and these patients have more ileal involvement, strictures and abdominal surgeries, and they tend to respond less to steroids and more to immune suppressive agents (azathiopurine or 6-MP) [43]. Arthropathy occurs in 25% to 40% of patients with CD in general, and it is also referred to as enteropathic arthropathy with peripheral and/or axial involvement. Peripheral arthropathy is classified as type I: self-limiting, following intestinal disease activity; and type II: independent of intestinal disease activity [44]. There is no correlation found between peripheral arthropathy or sacroilitis and NOD2 variants in CD patients [45]. Of note, there are substantial differences between CD and YAOS, though these two disorders share some overlapping symptoms (Table 1). CD results from an inappropriate inflammatory response to intestinal microbes in a genetically susceptible host leading to ileitis and transmural inflammation [46,47]. In addition to different endoscopic findings between these diseases, another distinguishing feature is dermatitis that occurs in 90% of YAOS patients, whereas it is astonishingly rare in CD patients; instead, the common dermatological presentations are erythema nodosa and pyoderma gangrenosum [29]. Intriguingly, IL-1 antagonists have been reported to induce and worsen CD [48,49]; however, these biologics have been found effective for YAOS. These data suggest a potential divergent mechanism between these two disorders.