'Silent' Celiac Disease Found in Kids at Rheumatology Clinic

Janis C. Kelly

June 15, 2015

"Silent" celiac disease (CD), or CD without gastrointestinal symptoms, was present in 2.0% of children presenting for initial pediatric rheumatology evaluation, researchers from the Hospital for Special Surgery, New York City, report in an article published online June 15 in Pediatrics. The authors say celiac testing should be included in the standard initial laboratory workup for pediatric rheumatology patients, as they found that initiation of a gluten-free diet led to resolution of musculoskeletal symptoms in many of the affected patients.

Yekaterina Sherman, BA, and a research team led by Thomas J. A. Lehman, MD, retrospectively reviewed medical charts and data from standardized serologic screening for 2125 patients (age, 2 - 16 years) who presented for care at the Hospital for Special Surgery, Division of Pediatric Rheumatology, between June 2006 and December 2013. The researchers found that 36 patients had previously unsuspected CD. Together with the eight patients known to have CD at study entry, the prevalence of CD during the 6.5-year study period was 2.0%, or about 1 in 48 patients. Prevalence in the general population was 0.7%.

Thirty of the 36 "silent CD" cases were confirmed by endoscopy. Six refused endoscopy but had significant reduction of symptoms with a gluten-free diet.

"The majority of the newly diagnosed CD cases, 22 out of 36 (61.1%), presented with musculoskeletal complaints alone and none of the classic symptoms of CD, such as abdominal pain, short stature, weight loss, and failure to thrive,” the authors write. “In fact, only 12 patients reported a history of [gastrointestinal]-related complaints." They note that these data provide further evidence that symptom-based case finding will miss the majority of CD cases in children.

Pediatric CD Guidelines Need a Rewrite

The researchers suggest that current clinical guidelines for CD screening published by the American College of Gastroenterology and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition be revised to include children with musculoskeletal complaints.

Current guidelines do not consider such patients to be a high-risk group and do not specifically recommend screening of this population. The guidelines recommend CD screening for children with failure to thrive, persistent diarrhea, recurrent abdominal pain, constipation and vomiting, dermatitis herpetiformis, dental enamel hypoplasia, osteoporosis, short stature, delayed puberty, iron-deficient anemia, asymptomatic diabetes mellitus, autoimmune thyroiditis, Down syndrome, Turner syndrome, Williams syndrome, selective immunoglobulin A deficiency, and a history of a first-degree relative with CD.

Clinicians using the current guidelines rather than screening all children with musculoskeletal complaints would have missed all but six of the asymptomatic CD cases in the study population. The authors note that prompt detection of CD would not only enable the patient to achieve the benefits of early initiation of a gluten-free diet but also avoid the dangers of unnecessary immunosuppressive therapy.

If CD Is Present, Is This Really Idiopathic Arthritis?

The association between CD and musculoskeletal complaints raised a further interesting question: Is this really "idiopathic arthritis" if it resolves with treatment of CD?

"Our data suggest that there may be a subset of patients with 'silent' CD who present with isolated musculoskeletal symptoms and that perhaps [juvenile idiopathic arthritis] is not an appropriate diagnosis in these cases. Clinicians must be vigilant in cases such as these to evaluate appropriately for CD," the authors note.

The authors have disclosed no relevant financial relationships.

Pediatrics. Published online June 15, 2015.

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