Know the important differences between rheumatic diseases and how to recognize and make anappropriate diagnosis

Know the important differences between rheumatic diseases and how to recognize and make anappropriate diagnosis: Excerpt from Avoiding Common Pediatric Errors

Author: Nailah Coleman, MD

What to Do - Gather Appropriate Data

Rheumatic diseases include both primary vascular disorders, as well as disorders of connective tissues. Almost any organ can be affected, from the heart and lungs to the bones, joints or skin, and the clinical presentation can vary greatly, depending on the site involved. Three of the most common rheumatic disorders that can present in childhood are juvenile idiopathic arthritis (JIA, also known as juvenile rheumatoid arthritis), systemic lupus erythematosus (SLE), and juvenile dermatomyositis (JDMS).

Although there can be some overlap between these three diseases, they each have distinct criteria that should be met for accurate diagnosis. In JIA, children younger than 16 years of age must exhibit the presence of arthritis in at least one joint for more than 6 weeks, and other types of childhood arthritis should have been excluded. Common classifications include pauciarticular JIA (involvement of four or fewer joints during the first 6 months of illness), polyarticular JIA (involvement of five or more joints during the first 6 months of illness; may be associated with mild systemic symptoms, such as fever or malaise), and systemic-onset JIA (extra-articular manifestations, such as fever or rash, tend to precede the onset of articular symptoms, and complications, like pericarditis and pleuropericarditis, are more common).

The diagnosis of SLE is made if the clinician can detect the presence of four or more of the 11 criteria as proposed by the American College of Rheumatology. These criteria are as follows: malar rash, discoid rash, photosensitivity, oral ulcers, arthritis, serositis, renal, neurologic, hematologic, or immunologic disorders, and/or the presence of antinuclear antibodies (ANAs).

JDMS can have diagnostic similarities to other rheumatic diseases. Many patients with JDMS can have a characteristic rash that may be confused with the malar rash of SLE. Unlike in SLE, patients with JDMS also present with symmetric proximal muscle pain and/or weakness, involving the shoulder and pelvic girdles, and fatigue.

Blood tests are often used in conjunction with the history and physical to support a particular diagnosis. ANAs, one of the diagnostic criteria of SLE, may be present in any number of rheumatic diseases, as well as non- rheumatic diseases, such as neoplasms or infections. It can also be seen in up to 15% to 30% of the normal population, making it a nonspecific finding. ANA is also used to stratify the risk of certain disease complications; for example, patients with JIA that are ANA-positive are at a greater risk of development uveitis. Anti-double-stranded DNA or anti-Smith antibodies may be present in SLE. Both are less sensitive, but much more specific than ANA for SLE. Rheumatoid factor may be seen in both rheumatic and nonrheumatic diseases, but its presence in JIA can be associated with more severe erosive joint disease and poorer functional outcomes. Children with JDMS often have elevated muscle enzymes (i.e., creatine kinase, aspartate aminotransferase, lactate dehydrogenase, and aldolase), nonspecific markers of muscle inflammation that may be elevated in a number of diseases.

As mentioned previously, rheumatic disorders can affect any organ, resulting in a variety of complications. Nonetheless, the physician should be familiar with some of the more common complications:
• Uveitis: An inflammatory condition of the anterior eye, often seen in JIA, that may lead to impaired vision or blindness. It is often asymptomatic and requires regular screening.
• Lupuscerebritis:Aconditionthatmaypresentwithheadache,psychosis, depression, or altered mental status; however, children on immunosuppressive therapy for their lupus may have similar symptoms due to an acute infection (i.e., meningitis) and must be evaluated accordingly.
• Serositis: An inflammation of the pericardium or pleural spaces that may lead to cardiac tamponade or pulmonary effusions and compromised cardiopulmonary function that can be life-threatening in severe cases.
• Libman-Sacks endocarditis: An inflammation of the endocardium that may result in the formation of sterile vegetations, increasing the risk of infectious endocarditis. These patients require infective endocarditis prophylaxis prior to invasive procedures.
• Lupus nephritis: Renal disease, graded based on pathology seen on renal biopsy, and a major cause of morbidity and mortality that can lead to hypertension and/or renal failure.
• Raynaud phenomenon: A vasculopathy of the digits that is often exacerbatedbycold, emotional stress,caffeineor tobacco smoke;severedisease may require treatment with a vasodilator or even lead to infarction of the digit.
• Esophageal dysmotility: Disordered esophageal motion, often seen with JDMS. In severe cases, associated reflux may lead to severe or recurrent aspiration pneumonitis. The treatment of rheumatic disorders is tailored to the organ or system involved, but the goals of therapy are common to all diseases. In each case, the clinician should work to maximize mobility. Both arthritis and myositis can lead to impaired musculoskeletal function and decreased mobility. Physical therapy, occupational therapy, and splint applications are used in preserving function and limiting the development of contractures. Any patients with arthritis should have their pain addressed and adequately treated. First-line options for pain relief are nonsteroidal anti-inflammatory drugs (NSAIDs), although these medications do not necessarily alter disease progression. Patients with chronic NSAID use must also be given gastrointestinal prophylaxis, with the use of antacids, histamine blockers, or proton-pump inhibitors. With a multitude of evidence that a number of rheumatic disorders are related to altered immune function, immunomodulators are often used. As such, the use of steroids, methotrexate, antitumor necrosis factor receptors or anti-interleukin agents can be used in some or all of these diseases. Patients on immunomodulators are considered immunocompromised, with an increased susceptibility to a number of infections, particularly tuberculosis, listeriosis, and histoplasmosis, as well as the more common pathogens, and should be treated accordingly:
• Whenever possible, ensure live vaccines (i.e., varicella as well as measles, mumps, and rubella) are given prior to the initiation of treatment.
• Patients should be screened for latent tuberculosis, as the initiation of these medications may lead to reactivation of the disease.
• Immunomodulators should not be initiated until malignancies or neoplasms have been ruled out.

All patients should be monitored for disease progression as well as for adverse effects of treatment. Patients on chronic steroids should be monitored for growth delays and osteopenia; patients on methotrexate should be given folic acid supplements to prevent oral ulcers and vitamin deficiencies. Whenever an exacerbating factor can be identified, instruct patients to take appropriate precautions. For example, exposure to sunlight may lead to a disease flare in patients with JDMS or SLE. These patients must be instructed to wear sunscreen at all times, including with exposure to indoor light. In all cases, early and aggressive interventions lead to better outcomes.

Suggested Readings

Goldmuntz EA, White PH. Juvenile idiopathic arthritis: a review for the pediatrician. Pediatr Rev. 2006;27(4):e24–e32.
Gottlieb BS, Ilowite NT. Systemic lupus erythematosus in children and adolescents. Pediatr Rev. 2006;27(9):323–330.
Pachman LM. Juvenile dermatomyositis: a clinical overview. Pediatr Rev. 1990;12(4):117–125.
Wikipedia. Rheumatism. Available at: http://en.wikipedia.org/wiki/Rheumatic diseases. Accessed November 16, 2007.

Book Source Details

• Book Title: Avoiding Common Pediatric Errors
• Author(s): Anthony D Slonim MD, DrPH; Lisa Marcucci MD
• Year of Publication: 2008
• Copyright Details: Avoiding Common Pediatric Errors, Copyright © 2008 Lippincott Williams & Wilkins.

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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

More About This Book: Title: Avoiding Common Pediatric Errors Authors: Anthony D Slonim MD, DrPH; Lisa Marcucci MD Publisher: Lippincott Williams & Wilkins Copyright: 2008 ISBN: 0-7817-7489-6

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