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770          Part six  Systemic Immune Diseases



         TABLE 57.1  Current Classification Criteria for spondyloarthritis
          a. European spondyloarthropathy study Group (EssG)     (a) Inflammatory low back pain
          Criteria for spondyloarthritis                        (b) Arthritis
          1. Inflammatory back pain or synovitis (asymmetrical, lower extremity)     (c)  Enthesitis
           plus one of the following:                           (d) Dactylitis
            (a) Alternating buttock pain                        (e) Psoriasis
            (b) Sacroiliitis                                    (f)  Crohn disease or ulcerative colitis
            (c)  Heel pain (enthesitis)                         (g) Good response to nonsteroidal antiinflammatory agents
            (d) Positive family history                         (h) Positive family history of SpA
            (e) Psoriasis                                       (i)  Presence of human leukocyte antigen (HLA)-B27
            (f)  Crohn disease, ulcerative colitis              (j)  Elevated cross-reactive protein
            (g) Urethritis or cervicitis or acute diarrhea in the preceding 4 weeks
                                                              E. asas Criteria for Peripheral spondyloarthritis—arthritis or
          B. the Modified New York Criteria for               Enthesitis or Dactylitis With at Least One of:
           ankylosing spondylitis 4                           a. Uveitis
          1. Clinical criteria:                               b. Psoriasis
            (a) Low-back pain and stiffness for more than 3 months which   c. Crohn disease or ulcerative colitis
              improves with exercise, but is not relieved by rest  d. Previous infection
            (b) Limitation of motion of the lumbar spine in both the sagittal and   e. Presence of HLA-B27
              frontal planes                                  f.  Sacroiliitis on imaging
            (c)  Limitation of chest expansion relative to normal values correlated   OR
              for age and gender                              with at least two of:
          2. Radiological criterion:                          a. Inflammatory low back pain
            (a) Sacroiliitis grade 2 bilaterally or grade 3–4 unilaterally  b. Arthritis
            (b) Definite ankylosing spondylitis if the radiological criterion is   c. Enthesitis
              associated with at least one clinical criterion  d. Dactylitis
                                                              e. Positive family history of SpA
          C. the Classification Criteria for Psoriatic arthritis (CasPar)
          Criteria for Psoriatic arthritis                    F. the international League against rheumatism (iLar)
          1. Inflammatory joint disease plus at least three points from the following   Juvenile idiopathic arthritis Classification Criteria for
                                                              Enthesitis-related arthritis (Era)
           features:
            (a) Current psoriasis (assigned a score of 2; all others assigned a score   Arthritis and enthesitis
              of 1)                                           OR
            (b) History of psoriasis                          Arthritis or enthesitis with at least two of:
            (c)  Family history of psoriasis                    1. Sacroiliac joint tenderness and/or inflammatory spinal pain
            (d) Dactylitis                                      2. Presence of HLA-B27
            (e) Juxtaarticular new bone formation               3. Family history in at least one first- or second-degree relative of
            (f)  Rheumatoid factor seronegativity                 medically confirmed HLA-B27-associated disease
            (g) Nail dystrophy                                  4. Anterior uveitis that is usually associated with pain, redness, or
                                                                  photophobia
          D. asas Criteria for axial spondyloarthritis in Patients With   5. Onset of arthritis in a boy after 8 years of age
          Chronic Low Back Pain for at Least 3 Months         Exclusions
          1. Sacroiliitis on imaging (either MRI findings of inflammatory disease in   •  Psoriasis confirmed by a dermatologist in at least one first- or
           the sacroiliac joints or sacroiliitis on standard pelvic X-rays by New York   second-degree relative
           criteria) plus ONE of the following OR HLA-B27 positivity plus TWO of   •  Presence of systemic arthritis
           the following:





            KEY CONCEPts                                       estimating disease heritability to exceed 90%.  The concordance
                                                                                                   11
         The Genetic Basis of Spondyloarthritis                rate for AS in identical twins has been reported to be as high as
                                                                                                   11
                                                               63% compared with 23% in nonidentical twins.  The concurrence
          •  Human leukocyte antigen (HLA)-B27 comprises nearly 80% of the
           overall genetic susceptibility to ankylosing spondylitis (AS) and con-  rate for psoriasis in monozygotic twins is 70 versus 15–30% in
           tributes heavily to susceptibility to reactive arthritis, psoriatic arthritis,   dizygotic twins. Recurrence risk for parents and sibs of patients
           and enteropathic spondylitis.                       with CD is 4.8% and 7%, respectively, and for UC 0.9 and 1.2%,
          •  Additional influences seem to come from other major histocompatibility   respectively. 11
           complex (MHC) genes, including HLA-A*02, B*40 for AS and C*0602
           for psoriasis, whose identification has been confounded by linkage   HLA-B27 and Spondyloarthritis
           to HLA-B27.
          •  Genome-wide association studies (GWAS) utilizing dense single   HLA-B27, which is encoded in the MHC class I region (Chapter
           nucleotide polymorphism (SNP) mapping have located at least 70   5), confers the greatest known risk for AS and is found in up to
           genes or genetic regions in AS susceptibility.      90% of AS patients of European ancestry 11-13  (Table 57.3), as
          •  Over 60 genes have been identified thus far in psoriasis   opposed to 6–8% of healthy Caucasians. 12,14  The estimated
           pathogenesis.                                       prevalence of HLA-B27 in the United States is 6.1% overall, is
          •  GWAS utilizing dense SNP mapping will likely locate many of the   highest in younger individuals (7.5% before age 50 years), and
           remaining genes in AS susceptibility.                                              14
                                                               falls rapidly over age 50 years (3.3%).
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