Extraintestinal Celiac Symptoms in Kids

Headache, short stature, bone and joint issues, mood changes and other
non-gastrointestinal problems could be signs of celiac

Years ago, celiac in children was associated with malabsorption, watery diarrhea and loss of both weight and muscle. However, these symptoms are less likely today. In fact, when this set of symptoms presents itself, explains Alessio Fasano, MD, director of the Center for Celiac Research and Treatment at Massachusetts General Hospital, “we call students—you know residents, fellows—and say, take a picture here, you’re not going to see this anymore.”

While gastrointestinal symptoms still occur in children with celiac, the presentation has shifted. “We see kids with stomachache, or vomiting, or even constipation [with] no diarrhea that have celiac disease. They’re still classified as GI [gastrointestinal] symptoms, but they are so vague that they can be labeled as IBS [irritable bowel syndrome], they can be labeled as chronic constipation,” says Fasano. The symptoms are “not as straightforward [as] the typical malabsorption presentation with…watery diarrhea, weight loss, muscle wasting, and so on and so forth.”

Coupled with a change in the gastrointestinal presentation, another change is afoot for children with celiac. “In the past, the GI symptoms were the most frequent way that celiac disease [presented] in pediatrics. Not anymore,” notes Fasano. Presently, “it’s not unusual—actually it’s more frequent than before—that kids may present with extraintestinal symptoms, and the top of the list,” he notes “is anemia and, with that, chronic fatigue.” Those are just two of a longer list of extraintestinal symptoms, which afflict parts of the body other than the digestive system. The increase in rates of extraintestinal symptoms in children warrants a deeper look.

A deeper look

The term extraintestinal might be a new one, even for those who received their celiac diagnosis years ago. Rather, you may be more familiar with the phrases “typical” versus “atypical” in regard to presentation of celiac.


Fasano notes that symptoms closely associated with malabsorption were considered “typical” because the diarrhea, weight loss and a big belly were the classic signs of celiac. “That nomenclature has been abandoned,” he says, “[and] now we talk about intestinal/extraintestinal symptoms and the reason why…the GI presentation of celiac disease is not typical anymore.”

According to Fasano, roughly 60 percent of children with celiac exhibit intestinal indications while 40 percent experience extraintestinal symptoms. There is, he notes, a “gray area” in that some children will present with both gastrointestinal and extraintestinal symptoms.

In children, bone issues can indicate celiac. “Certainly patients with recurrent fractures or bone fragility [are] worth…screening for celiac disease,” says Norelle Rizkalla Reilly, MD, assistant professor of pediatrics at Columbia University Irving Medical Center and director of pediatric celiac disease at the Celiac Disease Center at Columbia University.


Related to fracture and bone health, children can experience “joint issues—joint complaints with swelling or without swelling—that seem to materialize and increase over time concerning the difficulties to do their sport and physical activities that they used to.”

Growth in general, and as it pertains to puberty, is another area of concern. Children “can present with issues dealing with failure to thrive so they’re short or…girls can have late menarche, so they start their periods much later than they’re supposed to,” says Fasano.

Reilly adds, “Just realizing that your child’s shoe size hasn’t increased” or he or she “hasn’t gone up a size in clothes [when expected]” could indicate a problem with growth.

Additionally, children can present with a rash that can be “very painful to deal with,” says Fasano. “The skin manifestation can be the classical dermatitis herpetiformis [DH, the most common skin symptom of celiac]…[but it could also be] a form of skin reaction [that is] not necessarily DH…more in the eczema category,” he explains.


Often-overlooked symptoms

“Probably the most intriguing—and now ramping up—way that the disease presents itself is with behavioral or neurological symptoms,” says Fasano.

Both Fasano and Reilly mention headaches. “[There is] probably under-recognition of the possibility of celiac disease in somebody with recurrent headaches,” notes Reilly.

With changes in behavior, “some kids…have more than normal mood swings. Others…show clear signs of anxiety and depression,” Fasano reports. “It’s not unusual for us to have kids …come to our clinic [who have] been worked out by…a psychiatrist [or] psychologist and put on the typical medication,” but the symptoms do not go away. When this happens, “eventually, either the family or the health-care provider starts to think about the possibility of something unusual, and they question the possibility of celiac disease.”

For children in this zone, it’s almost a process of elimination to determine the root cause of the problem. Fasano says, “If [a child is] depressed or anxious, you start by [asking whether] anybody else in the family [deals] with the same problem. [Did] anything happen in the family? Did something happen at school—is the [child] being bullied?” As he points out, if there is not “a clear…reason why this kid [is starting] to have changing…moods, you need to open your eyes to the possibilities and…go to the second tier of possibilities,” which can entail screening for celiac.


The relationship between the gut and the brain will likely receive more attention going forward. “The gut-brain axis is such a hot topic nowadays,” says Fasano. “And celiac disease is a good paradigm of how this cross-off between the gut and the brain is not one-way, as we believed before, that the brain influences the gut function—it can be the other way around. The gut can influence brain functions.”

Pinpointing extraintestinal symptoms 

With extraintestinal presentations covering such a wide range of signs, it can be hard to pinpoint when a symptom is connected to celiac. How is celiac, as opposed to another condition, determined as the cause?

“That’s the major challenge that we face on a daily basis when we deal with the diagnosis of celiac disease,” says Fasano. “It is very, very challenging. You need to have your level awareness,” which means that “celiac disease [is] in your radar screen, otherwise you usually miss it,” which is “the reason why we always advocate that low threshold to screen for celiac disease.”


When it comes to figuring out whether a child’s symptom is connected to celiac, Fasano explains that “the proper way to approach [a] problem in medicine is to think in terms of hierarchy of possibilities, from the most frequent to the most severe.”

This type of approach is warranted when evaluating concerns about “deceleration in weight gain or growth,” says Reilly. For example, if parents think that their child “may not be growing as expected, it’s always worth a check-in to make sure that [his or her rate of growth is] OK, especially as kids get closer to puberty or for kids that are very young.”

It remains unknown whether delayed puberty is directly linked to celiac “because in some cases delayed puberty can be hereditary,” Reilly says. However, when such a delay occurs in an adolescent with celiac, “we view it as a good thing [because he or she] still has some growth potential,” she explains. “We have [an] opportunity for recovery [following a diagnosis] in that sense.”

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