Gastroenterologists explain the prevalence of celiac disease, health risks, warning signs and treatment options.
There’s a good chance you know someone with celiac disease, says gastroenterologist Dr. Anthony DiMarino, director of the Jefferson Celiac Center. Celiac disease, an autoimmune gluten intolerance, is more common than most realize, as it impacts one percent of the U.S. population – or roughly one out of every 133 people.
Experts believe that nearly 80% of celiac cases go undiagnosed or misdiagnosed, due to lack of symptoms or symptoms that overlap with other conditions.
This is especially concerning for women, notes Dr. DiMarino, who are at greater risk for celiac disease. “The impacts of celiac disease stretch beyond abdominal symptoms; when left untreated, you may face serious long-term health complications.”
What causes celiac disease?
Celiac disease – which causes an immune response to the protein gluten, found in wheat, rye, and barley – is genetically predisposed. There are two genes known to cause it: HLA-DQ2 and HLA-DQ8. Around 30 percent of the U.S. population has one or both of these genes, explains Dr. DiMarino. “Having these genes doesn’t always guarantee celiac disease, but having celiac disease does mean you have at least one of these genes.”
What does celiac disease do to the body?
People with celiac disease don’t absorb gluten the way they’re supposed to. They produce tissue transglutaminase (tTG) antibodies that perceive gluten as a harmful, foreign substance, and attack it – primarily in the small intestine, explains Dr. DiMarino.
“Damage to the intestinal villi, or the finger-like structures that line the intestinal wall and absorb key nutrients, causes inflammation,” continued Dr. DiMarino. “Not only does this inflammation cause stomach discomfort and abnormalities in bowel habits, but it actually perpetuates the problem and causes the villi to absorb even more gluten.”
Celiac disease can start at any age, from birth to death, and impacts various other systems in the body, sometimes leading to hypothyroidism (Hashimoto’s), iron deficiency and anemia, bone weakness, nervous system disorders, liver disease, and/or infertility.
Why do more women have celiac disease than men?
While there’s no known reason behind the heightened prevalence in women, studies suggest that women are more prone to autoimmune conditions in general, explains Dr. DiMarino. It’s also believed that those with one autoimmune condition – such as lupus, rheumatoid arthritis, and type 1 diabetes – are naturally at higher risk for others. For instance, celiac disease and type 1 diabetes occur together frequently.
“Another theory is that women are more likely to have abdominal complications due to hormonal influences, and they’re more likely to bring it to the attention of their doctors, and thus get diagnosed, added Dr. DiMarino.
The connection between celiac disease and infertility
Infertility is one of the greatest concerns for women with celiac disease, though it is rare. A study conducted by Dr. DiMarino and Dr. Stephanie M. Moleski, Jefferson Health Gastroenterologist, on infertility and pregnancy outcomes in celiac disease revealed that there was in fact an increased risk in spontaneous miscarriages and pre-term deliveries.
“These fertility issues are likely rooted in damage caused to the placenta. The placenta contains tTG. So, in a healthy-appearing young woman with celiac disease, her tTG antibodies could be attacking the placenta – the same way they attack the intestine, thyroid, and other organs – hindering its functionality,” explained Dr. DiMarino.
In addition, it’s theorized that men with celiac disease may also contribute to infertility, as they produce abnormal sperm, along with abnormal hormone levels.
Can treatment help?
Yes, proper, long-term management can reduce the risk for infertility and other complications, says Dr. DiMarino. “I’ve seen patients, who’ve had trouble conceiving for years, follow a gluten-free diet for several months, and then were able to successfully get pregnant and give birth multiple times.”
Today, the only treatment for celiac disease is a gluten-free diet. This isn’t as simple as it may sound, as there are many unexpected foods, and even medications, that contain gluten as filler, notes Dr. DiMarino. “This is why it’s indispensable for those with celiac disease to receive specialized care. At the Jefferson Celiac Center, we have dietitians who are well-versed in gluten sensitivity and issues like cross-contamination.”
What are the warning signs of celiac disease?
Symptoms of celiac disease vary, but often include persistent alteration in bowel habits, with bloating, gas, diarrhea, fatty stool, and/or constipation. You shouldn’t be concerned about celiac disease if you just have an “off” day every now and then, notes Dr. DiMarino.
Other symptoms overlap with the complications discussed above. Anemia, iron deficiency, and malnutrition can cause chronic fatigue and weakness. Some develop a chronic, bumpy, blistery skin rash called dermatitis herpetiformis. Having another autoimmune condition, coupled with these bowel complaints, is also a tell-tale sign, adds Dr. DiMarino.
What can you do?
It’s important to pay close attention to any symptoms and know your family history, continues Dr. DiMarino. If you have a first-degree relative with celiac disease, there is a 10-fold risk that you have it too.
“If you have symptoms, don’t just ignore them,” said Dr. DiMarino. “Too many people become ‘used’ to living with abdominal and bowel complications, not realizing the severity of the risks at hand.”
If you suspect you might have celiac disease, talk to your primary care provider right away. They can run a blood test to check for tTG antibodies (if elevated, a small bowel biopsy may follow) and either confirm or rule out a celiac diagnosis.