Eye disease Uveitis/retinitis Iridocyclitis (rare in No Conjunctivitis, No No Conjunctivitis, uveitis systemic)
Pathogenesis Autoimmune Autoimmune Group A Borrelia Acute lymphoblastic N. gonorrhoeae Unknown streptococcus burgdorferi leukemia
ANA, Antinuclear antibody; ASO, antistreptolysin-O titer; CCP, cyclic citrullinated protein; NSAID, nonsteroidal anti-inflammatory drug; TNF, tumor necrosis factor; WBC, white blood cell.
Coombs-positive hemolytic anemia Immune neutropenia Immune thrombocytopenia Thrombosis (anticardiolipin, antiphospholipid, lupus anticoagulant) Immune lymphopenia Antimitochondrial (primary biliary cirrhosis, SLE) Antimicrosomal (chronic active hepatitis, SLE) Antithyroid (thyroiditis, SLE) Antineutrophil cytoplasmic antibody (ANCA-cytoplasmic) (granulomatosis with polyangiitis) ANCA-perinuclear (microscopic polyangiitis) Anti-CCP (rheumatoid positive JIA)
Single-stranded DNA (nonspecific, indicates inflammation) Double-stranded DNA (SLE, renal disease) DNA-histone (drug-induced SLE) Sm (Smith) (SLE, renal, CNS) RNP (ribonucleoprotein) (SLE, Sjögren syndrome, scleroderma, polymyositis, MCTD)
Ro (Robert: SSA) (SLE, neonatal lupus-congenital heart block, Sjögren syndrome) La (Lane: SSB) (SLE, neonatal lupus [congenital heart block],
Sjögren syndrome) Jo-1 (polymyositis, dermatomyositis) Scl-70 (systemic sclerosis) Centromere (CREST; limited scleroderma) PM-Scl (scleroderma, UCTD)
Adapted from Condemi J: The autoimmune disease, JAMA 268:2882–2892, 1992.
ANCA, Antineutrophil cytoplasmic antibody; CCP, cyclic citrullinated protein; CNS, central nervous system; CREST syndrome, calcinosis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, telangiectasia; MCTD, mixed connective tissue disease; SLE, systemic lupus erythematosus; SSA, Sjögren syndrome antigen A; SSB, Sjögren syndrome antigen B; UCTD, undifferentiated connective tissue disease.
cytokines, and circulating antibodies. This antibody production can be nonspecific, or it can be targeted against specific native proteins, leading to subsequent disease manifestations (Table 86-2). Although immune system hyperactivity may be self-limited, the hallmark of most rheumatic diseases of childhood is chronicity, or the perpetuation of the inflammatory process, which can lead to long-term disability.
Although rheumatic diseases sometimes present with nonspecific symptoms, especially early in the course, over time a characteristic set of symptoms and physical findings can be elicited. In conjunction with carefully chosen confirmatory laboratory tests, an appropriate differential diagnosis is made, and eventually the correct diagnosis and treatment plan is developed.
Most rheumatologic diagnoses are established by clinicalfindings and fulfillment of classification criteria. Laboratorytesting should be judicious and based on a differential diagnosisrather than random screening in search of a diagnosis. Laboratory tests confirm clinical diagnoses rather than develop them.