Symptoms Suggestive of Rheumatic Disease

There are no classic symptoms of a rheumatic disease, but common symptoms include joint pain, fever, fatigue, and rash. Presenting signs and symptoms help direct the evaluation and limit unnecessary testing. Once a differential diagnosis is developed on the basis of history and physical findings, a directed assessment assists in determining the diagnosis.

Arthralgias are common in childhood and are a frequent reason for referral to pediatric rheumatologists. Arthralgias without physical findings for arthritis suggest infection, malignancy, orthopedic conditions, benign syndromes, or pain syndromes such as fibromyalgia (Table 147-1). Although rheumatic diseases may manifest as arthalgias, arthritis is a stronger predictor of the presence of rheumatic disease and a reason for referral to a pediatric rheumatologist. The timing of joint pain along with associated symptoms including poor sleep and interference with normal activities provides important clues. Poor sleep, debilitating generalized joint pain that worsens with activity, school absences, and normal physical and laboratory findings in an adolescent suggest a pain syndrome (e.g. fibromyalgia). If arthralgia is accompanied by a history of dry skin, hair loss, fatigue, growth disturbance, and/or cold intolerance, testing for thyroid disease is merited. Nighttime awakenings due to severe pain along with decreased platelet count or white blood cell count or, alternatively, a very high white blood cell counts may lead to the diagnosis of malignancy, especially marrow-occupying lesions such as acute lymphocytic leukemia and neuroblastoma. Pain with physical activity suggests a mechanical problem such as an overuse syndrome or orthopedic condition. An adolescent girl presenting with knee pain aggravated by walking up stairs and on patellar distraction likely has patellofemoral syndrome. Children aged 3 to 10 yr who have a history of episodic pain that occurs at night after increased daytime physical activity and that is relieved by rubbing but who have no limp or complaints in the morning likely have growing pains. There is often a positive family history for growing pains, which may aid in this diagnosis. Intermittent pain in a child, especially a girl aged 3 to 10 yr, that is increased with activity and is associated with hyperextensible joints on exam is likely benign hypermobility syndrome. Many febrile illnesses cause arthralgias that improve when the temperature normalizes, and arthralgias are part of the diagnostic criteria for acute rheumatic fever (ARF; Chapter 176.1).

Table 147-1 SYMPTOMS SUGGESTIVE OF RHEUMATIC DISEASES

HSP, Henoch-Schönlein purpura; JDM, juvenile dermatomyositis; JIA, juvenile idiopathic arthritis; MCTD, mixed connective tissue disease; SLE, systemic lupus erythematosus.

Arthralgia may also be a presenting symptom of pediatric systemic lupus erythematosus (SLE) and chronic childhood arthritis such as juvenile idiopathic arthritis (JIA).