May is Celiac Disease Awareness Month. Those with Turner Syndrome (TS) are at increased risk for celiac disease. As with TS, Increased awareness is critically important, so that patients, their caregivers, and medical professionals are aware of the symptoms, diagnosis, and management of this condition.
* This post was originally published in May 2021.
What Is Celiac Disease?
Celiac disease, sometimes called celiac sprue or gluten-sensitive enteropathy, is an immune reaction to eating gluten, a protein found in wheat, barley and rye. If a person has celiac disease, eating gluten triggers an immune response in the small intestine. Over time, this reaction damages the lining of the small intestine (hair-like structures called villi), preventing the absorption of vital nutrients. If left undiagnosed or untreated, this malabsorption can affect growth and development in children. It can also lead to serious health complications in adults.
More than 200,000 cases of celiac disease are diagnosed per year in the U.S. It is estimated that about 1 in every 100 people in the U.S (about 1%) have the condition. Like TS, it is often misdiagnosed or under-diagnosed and can take years to uncover. The average length of diagnosis of celiac disease is 6 to 10 years. An estimated 83% of people with celiac disease in the U.S. don’t know they have it or are misdiagnosed. Like TS, celiac disease is a chronic condition.
It is important to note that celiac disease is an autoimmune disorder, not a wheat allergy. A true wheat allergy can cause potentially deadly anaphylaxis.
Your genes, combined with eating foods with gluten and other factors, can contribute to celiac disease. However, the precise cause isn’t known. Infant-feeding practices, gastrointestinal infections, and gut bacteria might contribute, as well.
Sometimes celiac disease can be triggered by surgery, pregnancy, childbirth, viral infection, or severe emotional stress. So many people who carry the genes are diagnosed later in life. The later the age of celiac disease diagnosis, the greater the chance of developing another autoimmune disorder.
People with celiac disease can experience a wide range of symptoms throughout their entire bodies, including:
- pain in the abdomen or joints, cramping;
- indigestion, heartburn, belching, flatulence, bloating;
- lactose intolerance;
- diarrhea, fat in stool;
- nausea, vomiting;
- low blood count (anemia);
- bone loss (osteoporosis or osteopenia);
- malnutrition, weight loss;
- delayed puberty or slow growth; and
- itching, skin rash (dermatitis herpatiformis, or DH).
Much like with TS symptoms, every person is different. Some may experience minimal symptoms–even after diagnosis and treatment–and some may experience multiple symptoms from the above list.
Here is a helpful graphic that describes the wide-ranging and multi-systemic symptoms a person with celiac disease may experience.
A gastroenterologist can diagnose and treat celiac disease. To begin with, two blood tests can help diagnose the condition*:
- Serology testing looks for antibodies in the blood. Elevated levels of certain antibody proteins indicate an immune reaction to gluten.
- Genetic testing for human leukocyte antigens (HLA-DQ2 and HLA-DQ8) can be used to rule out celiac disease.
Note: It is important to be tested for celiac disease before trying a gluten-free diet. Eliminating gluten from one’s diet might make the results of blood tests appear normal.
If the results of these blood tests indicate celiac disease, your doctor will likely order one of the following tests*:
- Upper endoscopy: This test uses a long tube with a tiny camera inserted in the patient’s mouth and passed down their throat. The camera enables the doctor to view the small intestine and take a small tissue sample (biopsy) to analyze for damage to the villi. The patient is often given a local anesthetic to the throat and put under moderate sedation. This procedure is generally painless, except for a sore throat afterwards.
- Capsule endoscopy: This test uses a tiny, wireless camera to take pictures of the entire small intestine. The camera sits inside a vitamin-sized capsule, which the patient swallows. As the capsule travels through the digestive tract, the camera takes thousands of pictures that are transmitted to a recorder.
* Your doctor may recommend a “gluten challenge” (purposely eating gluten) prior to these tests, to ensure any intestinal damage is detectable. It is important to discuss this with your doctor.
While there is no cure for celiac disease, for most people, following a strict gluten-free diet can help manage symptoms and promote intestinal healing.
Wheat, barley, and rye are the main culprits, but there are also many other sources of gluten, such as food starch, MSG, soy sauce, and other condiments. Understanding these sources and carefully reading labels is vitally important for those with celiac disease. Several cosmetics and toiletries even contain gluten.
Non-Celiac Gluten/Wheat Sensitivity
People with non-celiac gluten or wheat sensitivity experience symptoms similar to those of celiac disease, which resolve when gluten is removed from the diet. The terms non-celiac gluten sensitivity (NCGS) and non-celiac wheat sensitivity (NCWS) are generally used to refer to these conditions, after testing negative for celiac disease and a wheat allergy. People with NCGS or NCWS can have similar intestinal damage as those with celiac disease.
Connection Between TS and Celiac Disease
Celiac disease tends to be more prevalent in individuals with TS. Studies have found that 4 to 6% of TS patients also have celiac disease. Experts recommend that individuals with TS be regularly tested for celiac disease, in addition to their other yearly exams. If you have TS and are experiencing any of the symptoms mentioned above, ask your doctor about testing for celiac disease.
My Journey with TS and Celiac Disease
I was diagnosed with TS at the age of 19. During college and early adulthood, I experienced frequent gastrointestinal (GI) issues but generally attributed them to stress. During a trip out of the country when I was 34, I became very ill and had to cut my trip short. My doctors originally thought I had some kind of “Monster Inside Me” parasite. All of my lab work was negative.
One nurse chalked my symptoms up to anxiety. Another doctor had me tested for MS, since I was having strange neurological symptoms (like numbness and tingling in my extremities), in addition to the GI symptoms and fatigue. Every test was negative.
Finally, I saw a gastroenterologist at Mercy Medical Center in Baltimore. He immediately wondered about celiac disease and ordered a blood test. The results were “off-the-charts” positive. Given how much I was suffering, he told me to start a gluten-free diet immediately. I researched it and looked for gluten-free food, and I felt better almost immediately.
My doctor then ordered an endoscopy and small intestine biopsy, which I was very nervous about (turns out it was not bad at all for me). It was inconclusive, probably because I had not done a “gluten challenge” (as described above), and my intestines had already begun to heal. However, I continued with my gluten-free diet and have to this day.
Over the past 18 years of living with celiac disease, I have learned several things:
- There are a wealth of resources at your fingertips (see below) to learn more about the condition and how to manage it.
- Celiac disease is a serious health condition. A gluten-free diet is not a “fad” or choice for those with celiac disease or NCGS/NCWS.
- While I have been accidentally “glutened,” I have never once intentionally cheated on my gluten-free diet. It is not worth it.
- Given the increased awareness of the condition, there are more food options in stores, online, and in restaurants. I still read labels and ask questions like a detective, though.
- In addition to reading labels and deciphering ingredients (food-labeling laws in the U.S. are awful), those with celiac disease also have to be careful about cross-contamination, both in restaurants and at home.
- At first, I underestimated the social and emotional aspects of celiac disease. Much like TS, it can be isolating. I can’t partake in the office pizza parties. I can’t grab a quick bite just anywhere when I’m out and about. I have to scrutinize everything I eat. On the other hand, celiac disease is easy to manage, once you learn about and get used to a gluten-free diet.
Celiac disease is only one of the medical conditions that can be related to TS. Early diagnosis and treatment are critical to managing this condition, especially for those with another chronic condition like TS.
Written by Susan Herman, Turner Syndrome Foundation (TSF) Blog Coordinator.
© Turner Syndrome Foundation, 2022