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Chapter 26

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  • Most diagnoses are based on history and physical exam findings. (see the table below).
  • Rheumatic diseases are great masqueraders, mostly mimicking disease processes like infection and malignancy.
  • ANA is not specific and should not be utilized as a screening tool unless a specific question needs to be addressed (eg, risk of uveitis in a patient with oligoarticular JIA, patient with suspicion of SLE etc.).

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History Elements

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  • Fever pattern, weight loss, nocturnal pain, bone pain, night sweats, fatigue
  • Morning joint stiffness, relieved or exacerbated by rest or activity
  • Number and location of joints involved, fixed or migratory, transient or chronic
  • Performance of activities of daily living, school absences, decline in school performance
  • Trauma
  • Exacerbation of symptoms over time (acute versus insidious)
  • Travel: including Lyme-endemic areas and foreign travel, exposure to unpasteurized cheese and undercooked pork, exposure risks to TB

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Review of System Elements

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  • Alopecia, dry mouth and/or eyes (sicca syndrome symptoms), visual changes (erythema, decreased vision), periorbital swelling, oral and/or nasal ulcers, difficulty hearing, dysphagia, dysphonia
  • Dyspnea, chest pain, chronic cough
  • Anorexia, diarrhea/bloody stools, nausea, vomiting, abdominal pain, abdominal distention
  • Irregular menses, absence of menses
  • Bruising, bleeding, petechiae, purpura
  • ↓ UOP, hematuria
  • Swelling of extremities or periorbital region
  • Memory loss, difficulty with concentration, unusual or psychotic behaviors, sleep hygiene (sleep deprivation vs. rheumatologic process causing difficulty concentrating)

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Family History Elements

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  • Arthritis, IBD, JIA, SLE, psoriasis, fetal losses, IUGR, premature births, preeclampsia, thromboses, strokes, other autoimmune diseases (eg, hypo- or hyperthyroid disease, type I DM, myasthenia gravis, muscular sclerosis); FHx may be ⊝

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Physical Exam Elements

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  • General appearance; vital signs; growth curves for height, weight, BMI
  • Skin: presence of rashes, including unusual skin findings (ie, tight, thickened skin); splinter hemorrhages in nail beds and abnormal periungual capillary changes at periungual regions; hair appearance (ie, alopecia)
  • HEENT: lacrimal/parotid gland prominence; oral/nasal mucosal membranes for ulcers, erythema, bleeding; dentition; eye examination
  • Neck: evaluation for lymphadenopathy and thyromegaly
  • Cardiac: attention to murmur, rubs, gallop, arrhythmia, and pulses
  • Lungs: routine with special attention to quality and quantity of breaths
  • Abdominal: presence of hepatosplenomegaly
  • Joint: presence of deformity; pain; erythema; warmth; swelling; effusion; limited range of motion, including neck, low back, and TMJ
  • Muscle: bulk, strength, atrophy
  • Gait: evaluate for stability, tandem gait, heel and toe walking
  • Full neurologic exam

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Mechanical/orthopedic problems: Joint hypermobility, benign joint hypermobility syndrome, localized hypermobility, Marfan syndrome, Ehlers–Danlos syndrome, irritable hip (transient synovitis), Perthes' disease, other osteochondritis, slipped upper femoral epiphysis, chondromalacia patella, anterior patella syndrome, back pain

Inflammatory disorders: JIA, JRA, spondyloarthritis, psoriatic arthritis, SLE (lupus), juvenile dermatomyositis, IBD, MCTD, linear scleroderma, progressive systemic sclerosis, panniculitis, CRMO/SAPHO syndromes, vasculitis, KD, HSP

Infection/postinfective: Transient synovitis, rheumatic fever, septic arthritis, osteoarticular tuberculosis, brucella/lyme/fungal arthritis

Hematologic problems: Sickle cell disease, other hemoglobinopathies, hemophilia

Neoplasia: Leukemia, neuroblastoma, metastatic disease, primary bone ...

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