By Marti Webb Slay

If as a physician, you think celiac disease always presents with gastrointestinal symptoms – and only gastrointestinal symptoms – UAB gastroenterologist Amanda Cartee MD wants to refresh your awareness of the condition and what the symptoms can include.

“We used to think of celiac disease as presenting with diarrhea, abdominal bloating, weight loss, and what’s sometimes called failure to thrive or vitamin deficiencies in school age children of mid-European ancestry,” Cartee said. “We now know that’s not the only way it can present. Actually, more people have constipation than diarrhea. People can have nausea and heartburn. And even aside from the gastrointestinal symptoms, they can have fatigue, headaches, joint pain and skin rashes. Some people have bone loss, or osteoporosis. Often people aren’t diagnosed because we don’t realize they can have so many different types of symptoms.”

Symptoms can be quite mild for some patients. “I have some patients who have had two to three bowel movements a day for most of their life,” Cartee said. “That changed with their celiac diagnosis, but it was so mild that they never went to a doctor. In fact, some people don’t have any symptoms. There are still consequences to having the disease, however, including anemia, osteoporosis and liver problems. 

“Many times physicians don’t consider a possible celiac disease diagnosis because of the patient’s heritage or because they think the disease is rare. While it was once considered a disease of people of Irish or Nordic descent, it’s now clear that people from India or China, or their descendants, can also develop celiac disease. I estimate that one percent of US citizens have it, which counts as common.”

Routinely screening everyone for celiac disease is considered controversial. The United States Preventive Services Task Force concluded in 2017 that “the current evidence is insufficient to assess the balance of benefits and harms of screening for celiac disease in asymptomatic persons.” But Cartee said there are certain patients who wouldn’t have been screened in the past that now should be tested, based on current knowledge. 

“We recommend that there are certain types of people who should be tested,” she said. “That would be anybody with the symptoms [discussed above], anyone with elevated liver tests and anybody with ongoing anemia. People with other autoimmune conditions can be at higher risks of it, so if they are having symptoms, they should be tested. We pretty strongly recommend anyone with a first degree relative be tested. That’s how we catch up to 25 percent of people who have it: if they have a child or a sibling or a parent who is diagnosed.

“Celiac disease can develop at any age. It’s hard to know if some people have had it for a long time and it just hasn’t been recognized, but I meet people in their 60s and 70s who have never had symptoms before and all of a sudden get symptoms, and then we diagnose them.”

When celiac disease is considered as a possible diagnosis, the first step is a blood test. This test has a 98 percent sensitivity, so if a patient tests positive, they likely have celiac, but those with only a mildly elevated result could get a false positive. Cartee recommends a biopsy before implementing an expensive and difficult gluten-free diet. It’s important for patients to get their tests while they are eating gluten because that is the only way to tell if it’s celiac disease.

She recommends a referral to a gastroenterologist for anyone with a new diagnosis, so they can be connected with a nutritionist and get appropriate follow-up tests. “A gluten-free diet is easier said than done,” she said. “It takes a while for the intestine to get back to normal and the patient needs regular blood tests and possibly a repeat biopsy.” 

While recovery may vary following the necessary dietary changes, it is usually weeks or even months before improvement can be seen. Recovery from fatigue and brain fog can take up to a year. 

In addition, Cartee said that celiac patients are at a higher risk for flu and pneumonia complications, so patients should be urged to get all necessary vaccines.