Musculoskeletal Symptoms of Silent Celiac Disease in Children Can Improve with Pharmacist Intervention

Musculoskeletal Symptoms of Silent Celiac Disease in Children Can Improve with Pharmacist Intervention

Musculoskeletal Symptoms of Silent Celiac Disease in Children Can Improve with Pharmacist InterventionCeliac disease has long been known for its complex array of symptoms, yet the way it manifests in children still takes parents—and sometimes doctors—by surprise. Why? Because these young patients are more likely to present with musculoskeletal problems than any of the classic symptoms.

Non-classic celiac symptoms like musculoskeletal are also referred to as silent, extra-intestinal, or atypical manifestations. Regardless of the name, it’s critical to be aware of the symptoms because non-classical symptoms often delay a diagnosis, and early diagnosis is vital for preventing serious health consequences. Pharmacists can protect these children through outreach to parents.

Prevalence of Celiac Disease in Children

The most compelling reason for pharmacist intervention is the immense number of children who have celiac disease—whether they know it or not. While the general prevalence rate is about 2 percent, it varies dramatically depending on risk factors. Take a look at these risk ratios:1

  • In the general population, a healthy person has a 1 in 133 chance of celiac disease
  • Children with first-degree relatives who have celiac disease – 1 in 22
  • Children with second-degree relatives with the disease – 1 in 39

Then again, prevalence rates are bound to be seriously underestimated because celiac disease often goes undiagnosed. It’s estimated that for every person diagnosed, another eight cases go undetected, thanks to silent and mild symptoms.2

Since children with atypical symptoms don’t have the diarrhea, stomach ache, and bloating that normally tip off parents and doctors to celiac disease, many will live with the disease for years before getting an accurate diagnosis. The longer they continue to consume gluten-containing products, the more their risk goes up for complications such as:

  • Chronic inflammation and damage to villi in the small intestine
  • Malabsorption leading to nutritional deficiencies
  • Failure to thrive/weight loss
  • Delayed puberty
  • Anemia
  • Recurrent abdominal pain
  • Osteoporosis and osteopenia
  • Higher risk for certain infections
  • Colitis
  • Refractory celiac disease
  • Neuropathy – risk more than doubles3
  • Autoimmune disorders – Children diagnosed between the age of 4 to 12 years have a 16.7 percent chance of developing an autoimmune disorder such as type 1 diabetes—the risk jumps to 27 percent for those diagnosed between 12 to 20 years.

Musculoskeletal Symptoms Dominate in Children

Infants in the age range of 6 to 24 months and young toddlers are likely to have classic symptoms of celiac disease—diarrhea associated with vomiting, anorexia, poor weight gain or weight loss and abdominal distention. As they get a little older, the effects of malabsorption and/or associated immune dysfunction begin to take a toll and symptoms become more atypical. While that opens the door to non-classical skin, genital, neurological and hematological symptoms, it turns out that children with musculoskeletal symptoms are at a higher risk for undiagnosed celiac disease, according to a retrospective review published in Pediatrics.4

Between June 2006 and December 2013, physicians in the Division of Pediatric Rheumatology at the Hospital for Special Surgery in New York evaluated 2125 children with a mean age of 9.4 years. After reviewing the patient files, they learned that 36 (nearly 2 percent) were newly diagnosed with celiac disease, based on positive serologic tests and a gastroenterologist’s evaluation. Since this was a rheumatology clinic, you’d expect these kids to have musculoskeletal problems, but the eye-opening results were the large percentage with unsuspected, silent celiac disease:

  • 61 percent presented with musculoskeletal symptoms alone and none of the classic symptoms
  • 33 percent had a history of gastrointestinal-related complaints.
  • 14 percent had GI symptoms without any musculoskeletal complaints

When the researchers compared their detailed diagnostic information, family history and lab tests with the current recommendations about when to screen children for celiac disease, they realized that all but six would have gone undiagnosed because they didn’t meet the screening criteria. Or put another way, standard screening is likely to miss the majority of children with silent celiac disease, which puts their health at risk.

Some of the most common musculoskeletal symptoms parents may encounter—all of which can occur without GI symptoms—include:

  • Delayed teething – Possibly related to malnutrition, delayed tooth eruption is reported in up to 27 percent of children with celiac disease.5
  • Dental enamel hypoplasia – Usually only found in permanent teeth although may be seen in deciduous teeth.
  • Osteopenia and osteoporosis – Reduced bone density and increased risk of fracture are common in children with celiac disease. In fact, half of them already have low bone mineral density at the time of diagnosis. Multiple factors contribute to these complications, including malabsorption of calcium and vitamin D with associated secondary hyperparathyroidism, unbalanced bone remodeling factors, increased circulating cytokines and possibly comorbid autoimmune conditions. Prevalence estimates say that anywhere from 10 to 50 percent of children with celiac disease develop osteoporosis.
  • Arthritis – As many as 3 percent of patients with juvenile chronic arthritis may have celiac disease. Significantly more cases of juvenile idiopathic arthritis are diagnosed in first-grade relatives of celiac patients.6

Pharmacists Facilitate Early Diagnosis of Silent Celiac Disease

Strict adherence to a gluten-free diet reverses damage to the small intestine, as well as many of the musculoskeletal problems. While keeping children away from gluten, which includes some medications along with wheat- rye- and barley-containing foods, isn’t an easy job for parents, at least their children can heal. But first someone has to see the red flags and alert parents to the possibility of celiac disease. Community pharmacists can proactively target patients with risk factors—those who have relatives with celiac disease, children who are too short, and children with type 1 diabetes, Down syndrome, or autoimmune thyroiditis—and educate them about atypical or silent symptoms. Encouraging parents to get their children evaluated is the crucial first step toward preventing chronic health conditions associated with celiac disease.

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Show 6 footnotes

  1. “Celiac Disease Facts and Figures,” accessed October 2016,
  2. “Celiac Disease: Pathophysiology, Clinical Manifestations and Associated Autoimmune Conditions,” 2008,
  3. “Risk of Neuropathy Among 28232 Patients With Biopsy-Verified Celiac Disease,” July 2015,
  4. “Unrecognized Celiac Disease in Children Presenting for Rheumatology Evaluation,” July 2015,
  5. “Pediatric Celiac Disease Clinical Presentation,” June 2016,
  6. “Celiac Disease and Autoimmune-Associated Conditions,” July 2013,

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