Pediatric Pulse: Autoimmune Diseases

Celiac disease (CD), idiopathic juvenile dermatomyositis (JDM), juvenile idiopathic arthritis (JIA), and scleroderma are among the most common autoimmune diseases in children. Their undetermined etiologies are probably both genetic and environmental. Most children with these conditions face a lifelong struggle. Fortunately, drug therapy can provide symptomatic relief.

Celiac Disease

Individuals who have CD react poorly to gluten. Approximately 1% of the US population has CD, and statisticians indicate that its prevalence is increasing. The most common response to CD is inflammation of the small intestinal mucosa, which reduces nutrient absorption and creates vitamin and mineral deficiencies, ultimately causing malnutrition. Symptoms in children with CD vary widely and can fluctuate over time. The hallmark signs and symptoms are diarrhea and/or constipation, short stature, anemia, stomach pain, and susceptibility to infection. In the most severe cases, growth is stunted and bones become weak. There is no cure for CD; prevention is the only way to avoid its effects. People with celiac disease must avoid, for life, gluten-containing foods that have any trace of wheat, rye, or barley.^1,2 CD often presents with other autoimmune diseases; in particular, patients with CD have 10 times the risk for type 1 diabetes mellitus.³

EDUCATIONAL RESOURCES

The following websites offer information and support for individual with CD and their families:

• GI Kids: www.gikids.org/content/3/en/Celiac-Disease
• North American Society for Pediatric Gastroenterology, Hepatology and Nutrition: www.naspghan.org/content/51/en/Celiac-Disease

A trio of National Public Radio podcasts answers questions about celiac disease:

• Diagnosing and Treating Celiac Disease: www.npr.org/templates/story/story.php?storyId=4244181
• Truth in Labeling: Celiac Community Cheers FDA Rule for Gluten Free: www.npr.org/blogs/thesalt/2014/08/06/338306544/truth-in-gluten-free-labeling-celiac-community-cheers-fda-rule
• Doctors Say Changes in Wheat Do Not Explain Rise of Celiac Disease: www.npr.org/blogs/thesalt/2013/09/26/226510988/doctors-say-changes-in-wheat-do-not-explain-rise-of-celiac-disease

Prefer a video? Try these:

• Celiac Disease Symptom Checklist (Mayo Clinic): www.youtube.com/watch?v=9edIbw4QWbs
• Signs and Symptoms of Celiac Disease in Children (Nationwide Children's Hospital): www.youtube.com/watch?v=XQN7zLlxVqM

Idiopathic Juvenile Dermatomyositis Idiopathic

JDM is a potentially lifethreatening systemic small vessel vasculopathy that primarily affects muscle and skin. The condition affects 2 to 3 children per million per year, usually begins around 7 years of age, and is more common in girls than boys. Its hallmark signs and symptoms are heliotrope rash, Gottron’s papules (violet-colored inflammation over the knuckles), and proximal muscle weakness. Most affected children also have systemic issues: fever, malaise, anorexia, weight loss, irritability, and/or abdominal pain. Most patients with idiopathic JDM will need high-dose (1-2 mg/kg/day) daily oral prednisone with adjunctive steroid-sparing immunosuppressive therapies (methotrexate [MTX], intravenous gammaglobulin, cyclosporine, azathioprine). All patients should receive supplemental calcium and vitamin D. Aggressive treatment may shorten the course of active illness, reduce calcinosis, lessen the likelihood of flare, and increase the likelihood of remission.⁴ Patients need to avoid sun exposure and use a sunscreen when they are outside.

EDUCATIONAL RESOURCES

These organizations provide information and support for children with idiopathic JDM and their families:

• American College of Rheumatology: www.rheumatology.org/Practice/Clinical/Patients/Diseases_And_Conditions/Dermatomyositis_%28Juvenile%29/
• The Myositis Association: www.myositis.org/learn-about-myositis/types-of-myositis/juvenile-dermatomyositis

Find a comprehensive video here:

• Cure JM Foundation: www.youtube.com/watch?v=9gg67TnrYqM

Juvenile Idiopathic Arthritis

JIA is characterized by arthritis that persists for at least 6 weeks, with onset before 16 years of age. The epidemiology and pathogenesis of JIA remain unclear. The condition can be oligoarticular, polyarticular, sacroiliac, or systemic. Polyarticular JIA involves more than 4 joints within the first 6 months. Compared with other forms of JIA, polyarticular JIA may be associated with rheumatoid factor, is more challenging therapeutically, and tends to be refractory and have a poorer prognosis than less-involved forms. Outcomes include joint damage, functional impairment, and decreased quality of life. Treatments for JIA are improving, mimicking those used for adults, and include nonsteroidal anti-inflammatory drugs (NSAIDs); glucocorticoids; the disease-modifying antirheumatic drugs leflunomide, MTX, and sulfasalazine; and biologics.^5,6 The most serious complication of JIA—uveitis— occurs in 30% of antinuclear antibody—positive patients, and emerging evidence supports the use of tumor necrosis factor β antagonists.⁷

EDUCATIONAL RESOURCES

Find information about and support for patients with JIA from these organizations:

• Arthritis Foundation: www.arthritis.org/arthritis-facts/disease-center/juvenile-arthritis.php
• American Academy of Pediatrics: www.healthychildren.org/English/health-issues/conditions/orthopedic/pages/Juvenile-Idiopathic-Arthritis.aspx

For information presented in video form:

• Arthritis Research UK: www.youtube.com/channel/UCvBfwJfZIQ6jWKpKYDy7DNw
• Canadian Institutes of Health Research: http://www.youtube.com/watch?v=EEcstaUcXX4

Juvenile Scleroderma

Juvenile scleroderma occurs as 2 distinct forms:

• Localized scleroderma (the most common form) can damage the skin, muscle, bones, and joints.

• Systemic scleroderma is generally more aggressive and extends to internal organs.

In localized scleroderma, some children develop morphea (relatively benign irregular patches that begin as pink pigment—free skin but may become pale, dry, and hard). Other children may have linear scleroderma (develops in streaks, often starting on 1 arm or 1 leg and extending to hands or feet). Two more involved forms include linear scleroderma en coup de sabre (linear facial or scalp scleroderma) and Parry Romberg syndrome, which involves an entire side of the face and may include the tongue. The most severe cases of scleroderma can lead to severe atrophy of the extremities, deformities, contractures, and limb length discrepancies.^8,9 Children with scleroderma of any type often have comorbid neurologic, ocular, respiratory, or gastrointestinal involvement.⁹ Treatments include topical, oral, or parenteral steroids; immunosuppressants (ie, MTX, cyclosporine); vitamin D; NSAIDs; light therapy; and supportive care.^8,9

EDUCATIONAL RESOURCES

Find information about and support for patients with juvenile scleroderma here:

• Scleroderma Foundation: www.scleroderma.org
• Sclero.org (International Scleroderma Network): www.sclero.org/medical/about-sd/a-to-z.html

Take-Home Points

The diagnosis of an autoimmune condition in a child can be one of the most emotionally and financially devastating experiences a parent faces. Sidebars throughout this article provide resources and contact information for health care providers and parents.

Ms. Wick is a visiting professor at the University of Connecticut School of Pharmacy.

References

1. Byass P, Kahn K, Ivarsson A. The global burden of childhood coeliac disease: a neglected component of diarrhoeal mortality? PLoS One. 2011;6(7):e22774.

2. Chumpitazi BP, Mysore K, Tsai CM, Shulman RJ. Interprovider variation of celiac disease testing in childhood chronic abdominal pain. BMC Gastroenterol. 2013;13(1):150.

3. Cronin CC, Shanafan F. Insulin-dependent diabetes mellitus and coeliac disease. Lancet. 1997;349(9058):1096-1097.

4. Wedderburn LR, Rider LG. Juvenile dermatomyositis: new developments in pathogenesis, assessment and treatment. Best Pract Res Clin Rheumatol. 2009;23(5):665-678.

5. Oberle EJ, Harris JG, Verbsky JW. Polyarticular juvenile idiopathic arthritis - epidemiology and management approaches. Clin Epidemiol. 2014;6:379-393.

6. Ringold S, Weiss PF, Beukelman T, et al; American College of Rheumatology. 2013 update of the 2011 American College of Rheumatology recommendations for the treatment of juvenile idiopathic arthritis: recommendations for the medical therapy of children with systemic juvenile idiopathic arthritis and tuberculosis screening among children receiving biologic medications. Arthritis Rheum. 2013;65(10):2499-2512.

7. Semeraro F, Arcidiacono B, Nascimbeni G, Angi M, Parolini B, Costagliola C. Anti-TNF therapy for juvenile idiopathic arthritis-related uveitis. Drug Des Devel Ther. 2014;8:341-348.

8. Zulian F, Athreya BH, Laxer R, et al; Juvenile Scleroderma Working Group of the Pediatric Rheumatology European Society (PRES). Juvenile localized scleroderma: clinical and epidemiological features in 750 children. An international study. Rheumatology (Oxford). 2006;45(5):614-620.

9. Zulian F, Vallongo C, Woo P, et al; Juvenile Scleroderma Working Group of the Pediatric Rheumatology European Society (PRES). Localized scleroderma in childhood is not just a skin disease. Arthritis Rheum. 2005;52(9):2873-2881.