Real stories of extraintestinal diagnosis
For Jayme Silver, 16, her symptom involved her height. “I was pretty short,” she recounts of her height in fourth grade. “I was smaller than all of my friends.” She was tested for celiac and, based on the positive blood results, underswent an endoscopy that confirmed the diagnosis.
Silver started eating a gluten-free diet and began to grow. “I grew, I think, 5 inches in the course of six months to a year.” The girl who was once smaller than everyone became, for the time, “taller than all my friends.” Today, the high school junior stands petite at just under 5 feet, but she knows even that growth would not have been possible without the diagnosis.
Healthy Gluten-Free Family blogger Karen’s son, now a teenager, was diagnosed right before his fifth birthday. While he didn’t have any classic celiac indications, she had “an overall ‘mom feeling’ that something just didn’t seem right.” Her son “seemed to get sick more often or more intensely with colds or high fevers and had a bunch of random aches and pains—canker sores, leg pains, fluid in ears, poor sleeping—that just didn’t add up to being seemingly otherwise healthy.”
Notably, “there can be oral manifestations of celiac disease, like recurrent canker sores or even dental enamel defects,” explains Norelle Rizkalla Reilly, MD.
Having both experienced leg pain in their youth, Karen and her husband “shrugged off” the symptom in their son “as possibly growing pains or genetic.”
Eventually, iron led to a celiac diagnosis. “He was diagnosed with low ferritin levels, which are iron stores as opposed to low iron, which implies anemic,” says Karen. “The first thing you assume with low ferritin levels is a deficiency in diet, and we were advised to take iron supplements and retest after a period of time.”
After a positive test for celiac, Karen’s son began a gluten-free diet: “Within two weeks on a gluten-free diet, his symptoms dissipated.” This had included some “low-level stomach pain,” which Karen noted her son had “never complained of” before the diagnosis. Today, she finds herself looking back from time to time, trying “to identify when symptoms started and when the celiac disease might have begun.”
Why the change?
Why are more children presenting with extraintestinal symptoms than they used to? According to Fasano, “The reason why you may develop extraintestinal symptoms, let’s say anemia, for example, is because the intestine is a very long tube. The average length of the [intestine in] kids between 10 and 15 years of age is between 15 and 16 feet. If damage affects only a few inches of the intestine—and the first few inches is where we bring iron in—then you develop anemia, but you don’t have GI symptoms because the rest of the intestine in spared.”
When it comes to presentation of celiac symptoms, a child’s age, intestinal size and extent of damage all factor in. “If you have 1 foot of the intestine damaged in a kid [who is] a year old, and you have a total of 3 feet [of intestine], one-third of your intestine is gone, and you’re going to develop the classical malabsorption symptoms,” Fasano explains. “But if [these same factors] materialize in kids who are 7 or 8 years old [with] 10 to 11 feet of intestine, you may not [see that classic presentation].
“For reasons that we don’t understand, honestly, the damage of the intestine—meaning how [much inflammatory processes have destroyed the intestine]—seems to be milder now than in the past…we don’t understand why [it] is happening. Is this because our feeding habit is changing? Is this because there are different ways we manipulate grains? We don’t know.”
Diagnosis is crucial
Receiving an accurate diagnosis as soon as possible is very important for kids. First and foremost, Reilly notes, the diagnosis can “improve quality of life.” Furthermore, she points out that “nutritional complications of celiac disease like vitamin deficiency, bone fragility and risks for other autoimmune conditions in some cases, we believe, may be diminished” after accurate diagnosis and treatment.
The key is growth. “Talking about school time or growth, again, one of the most concerning points of extraintestinal symptoms is indeed the kids missing growth,” says Fasano. “You miss diagnosis, and these kids start puberty, it’s not going to [be] enough catch-up growth at that point.” To that end, he asserts, screening for celiac disease in children “can make a world of difference—in this case, very impactful, you know, what [is] this kid’s destiny if [he or she is] not diagnosed properly?”
Susan Cohen is a New York freelance writer. She contributes regularly to Gluten-Free Living.
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