Celiac Disease and Down Syndrome: A Common Combination

People who have Down syndrome, a common genetic disorder, tend to develop celiac disease at rates far above those in the general population. In fact, celiac disease may affect as many as 16 in every 100 people with Down syndrome.

Why does this occur? Unfortunately, doctors aren't certain. But the strong connection between the two conditions is something that parents and caregivers of people with Down syndrome need to understand, so that they can be on the lookout for symptoms of celiac disease and get appropriate testing done, if necessary.

Down Syndrome Risk and Health Issues

Down syndrome stems from a problem with your genes. Everyone has 23 pairs of genes (you get one-half of each pair from your mother and one-half from your father), but people with Down syndrome have extra genetic material in one specific pair of genes: the 21st pair. This leads to what geneticists call "trisomy 21," the technical name for Down syndrome.

That extra genetic material can come from either your mother's egg or your father's sperm, and the risk of Down syndrome rises with the age of the mother (and possibly the father, although not all researchers take this view). Approximately one in every 700 babies born in the United States each year—around 6,000 babies in total—has Down syndrome.

People with Down syndrome have distinctive facial features, including almond-shaped eyes, small ears and mouth, and a smaller head that tends to be flat in the back. They also can have low muscle tone, and they often experience health issues ranging from vision and hearing loss to heart defects. All children and adults with Down syndrome have some form of intellectual disability, although the level of these can vary substantially from person to person.

Problems with the digestive systems also are common in those with Down syndrome, and there are several aspects of the treatment plan. Babies born with Down syndrome may not have a fully-developed anus (which can be corrected by surgery right after birth). Around 5 percent to 15 percent of those with Down syndrome also may have a condition known as Hirschsprung disease, which occurs when the large intestine doesn't function properly. This may require surgery to remove the portion of the large intestine that isn't working.

Celiac Disease: Another Genetic Condition

Like Down syndrome, celiac disease is a genetic condition—generally speaking, you need to have at least one "celiac disease gene" to develop the condition. However, there are also other factors involved, some of which researchers haven't yet identified. Not everyone with those so-called "celiac disease genes" winds up with celiac disease.

Celiac disease is also an autoimmune condition, which means it involves an attack on a part of your body by your own immune system. When you have celiac, consuming foods made with one of the three gluten grains—wheat, barley, or rye—causes your immune system to attack and damage your small intestine. This limits your ability to absorb important nutrients from food. In its most severe form, celiac disease can cause serious malnutrition, anemia, and a heightened risk for lymphoma.

People with Down syndrome have a much higher risk for autoimmune diseases in general, and researchers believe that up to 16 percent of people with Down syndrome also have celiac disease. That's significantly higher than the approximately 1 percent rate in the general population. Experts urge parents to have children with Down syndrome screened for celiac disease with celiac blood tests between the ages of two and three.

Those children who screen positive will need to undergo a procedure known as an endoscopy so that doctors can look directly at and collect samples of their intestinal lining. This may sound like a big deal, but it's key to getting a definitive celiac disease diagnosis. Also, many parents whose children have undergone an endoscopy report that their child sailed through it with no problems and that it was more upsetting to the parents than it was to the children.

Detecting Celiac Disease Beyond Toddlerhood

Even if your Down syndrome child screens negative for celiac disease as a toddler, you shouldn't let your guard down. Even older adults have been newly diagnosed with celiac, and it's possible to develop the condition at any time. It's not just a childhood condition.

The best-known symptoms of celiac disease include watery diarrhea, fatigue, weight loss, and anemia. However, many people don't have these "classic" symptoms, and instead have symptoms that can include constipation, joint pain, and even hair loss. Children with celiac disease may grow more slowly than their peers and may ultimately be shorter as adults.

Problems such as attention-deficit hyperactivity disorder and depression also may be more common in people with celiac disease, and all of these can occur in people who also have Down syndrome, as well.

One study, led by clinicians at Boston Children's Hospital, found that Down syndrome specialty clinics don't always investigate symptoms of celiac disease, especially when those symptoms aren't the "classic symptoms" most commonly associated with the condition. That study cited constipation and behavioral problems as the symptoms most often reported by caregivers of children who subsequently were screened for celiac disease.

It's possible to have celiac disease without any noticeable symptoms at all, but two additional groups of researchers have found that people with Down syndrome who develop celiac disease are more likely than not to have obvious symptoms, especially slow growth. In fact, one study found that Down syndrome children who were newly diagnosed with celiac disease were highly likely to be below the 10th percentile for height and weight.

However, another study points out that typical celiac symptoms—anemia, diarrhea, and constipation—also occur frequently in Down syndrome children without celiac. It's also possible for those with celiac disease to have low thyroid function, which also can occur in the absence of celiac disease in those with Down syndrome. Therefore, the researchers said, caregivers and clinicians need to be vigilant and screen for the condition.

There's some good news: a major study from Sweden showed that people with both Down syndrome and celiac disease don't have a higher risk of death than people with Down syndrome alone.

Caring for Someone With Celiac Disease

Unfortunately, there aren't currently any prescription medications to treat celiac disease. That may change in the future, but as of now, the only treatment for celiac disease is the gluten-free diet, which the person with celiac must follow for life.

The gluten-free diet sounds relatively easy on paper, but it can be difficult in practice because so many foods contain gluten grains. When cooking for someone with celiac disease, you need to read labels carefully and guard against gluten cross-contamination in the kitchen.

In fact, some families make a practice of eating gluten-free at home to safeguard the health of the member with celiac disease. Eating out also can be challenging, although it's gotten easier with the proliferation of gluten-free menus at various fast food and quick-service restaurants.

A Word From Verywell

When your child has Down syndrome, contemplating a major change like the gluten-free diet might seem overwhelming, especially if your child also has other health complications that are common in those with Down syndrome. Raising a Down syndrome child or caring for an adult can be challenging, and adding special dietary restrictions won't help.

But there's good news: there's no need to deprive your child of cookies, pizza, and other childhood favorites since good gluten-free versions of all these foods are widely available. Also, once you've mastered the (admittedly steep) learning curve that comes with the diet, you'll likely find it will become second nature, and you may see some of your child's digestive and other symptoms improve, as well.