Pediatric rheumatology is a diverse and challenging field. Referral to a pediatric rheumatologist may be prompted by concerns that range from the common, such as musculoskeletal pain or interpretation of an abnormal autoantibody test, to rare but serious autoimmune diseases associated with significant morbidity and mortality. In the United States, there is currently an insufficient number of pediatric rheumatologists. Many pediatric residency training programs lack a pediatric rheumatologist on the faculty, leading to a dearth of educational opportunities for trainees. Providers’ limited exposure to pediatric rheumatology, combined with long waits for patient appointments due to workforce shortages, leads to frequent diagnostic delays for children with rheumatologic diseases. Thus, continuing medical education in this often underserved field is especially important. I am grateful for the opportunity, as Guest Editor of this issue of Pediatric Annals, to present articles on several vital topics in pediatric rheumatology.
The articles present cases exemplifying the broad range of problems commonly managed by pediatric rheumatologists. We have included topics representative of the diversity of the field, from the challenges most commonly encountered by primary pediatricians, to unusual, severe diseases.
One area of consternation for pediatricians is the interpretation of the increasingly complex range of autoantibody testing available. Antinuclear antibody (ANA) is among the most frequently ordered autoantibody tests, and positive results can be challenging to interpret. Dr. Martha Rodriguez and co-authors discuss the history, indications, and utility of ANA assays. In some circumstances, ANA testing can be a crucial piece of diagnostic data but in other clinical situations it can obfuscate the diagnosis and create excess anxiety among patients and parents.
Chronic noninflammatory musculoskeletal pain is a relatively frequent complaint among adolescents. I present an article on juvenile fibromyalgia. Fibromyalgia, a common but underrecognized condition, causes disproportionate suffering among patients due to its profound impact on daily functioning. Young people experience chronic pain in a complex way. A biopsychosocial approach is essential to the development of a successful multidisciplinary care plan. Management of fibromyalgia requires patience, but with appropriate counseling and careful coordination of care, most patients can achieve satisfactory outcomes.
The next three articles shift the focus from chronic problems to more acute, potentially life-threatening rheumatologic diseases. Dr. Linda Wagner-Weiner presents an article about a young child with high fever, rash, and arthritis who was diagnosed as having systemic juvenile idiopathic arthritis (sJIA). Historically, a large percentage of sJIA patients suffered long-term disability from chronic destructive arthritis. sJIA may be complicated by macrophage activation syndrome (MAS), which can result in mortality in a significant number of patients. Fortunately, treatment of both entities has advanced tremendously since the advent of biologic therapies directed against the inflammatory cytokines interleukin (IL)-1 and IL-6. Prompt diagnosis of sJIA and MAS allows for initiation of appropriate and effective treatment that should decrease the occurrence of morbidity and mortality.
The final two articles address rheumatologic causes of severe neurologic disease. Dr. Deirdre de Ranieri discusses a 6-year-old boy who presented with a stroke due to Takayasu’s arteritis (TA). Although rare in children, TA is important to recognize, as children may present with stroke or other devastating ischemic complications. Diagnosis of TA can be challenging as it often presents with prolonged nonspecific systemic inflammatory symptoms such as fever, weight loss, and malaise. As in many other rheumatologic diseases, early diagnosis is key; effective treatment is possible for most patients, but the consequences of end-organ ischemia can be irreversible.
Continuing the theme of neurologic involvement associated with rheumatologic disease, Dr. Arzu Soybilgic provides a comprehensive review of neuropsychiatric lupus, previously known as lupus cerebritis. The pathophysiology of this serious condition is multifactorial, with complex mechanisms potentially including vasculitis, ischemia, and direct autoimmune activity on the brain. Many patients with systemic lupus erythematosus will experience at least mild brain disease at some point during their disease course, and occasionally may have neuropsychiatric involvement as their initial manifestation. Prompt treatment, usually with potent immunosuppression including high-dose corticosteroids and sometimes cyclosphosphamide or other medications, is essential.
In conclusion, pediatric rheumatology is a fascinating and rapidly evolving field. We hope our readers will gain insight into the pediatric rheumatologists’ approach to diagnostic evaluation and treatment.