Celiac Disease: Is It Something I Ate?

Hippocrates, the father of modern medicine, said that all disease begins in the gut. For most people, eating a bowl of pasta is part a normal life, but for someone with celiac (SEE-lee-ak) disease this can have some serious consequences. Although the prevalence of celiac disease is increasing, awareness about the disease continues to remain relatively low, and people with celiac disease suffer silently with symptoms such as abdominal cramps and unexplained diarrhea. Those symptoms, however, are only the tip of the iceberg—below the iceberg there are symptoms that can be “silent” or not obvious and symptoms that can be present, but not recognized as tied to celiac disease.

Celiac disease is generally considered an autoimmune disorder—a disorder of developing antibodies to one’s own tissues. The name celiac derives from the Greek word for “hollow,” as in bowels. Celiac disease is an inflammatory condition of the small intestine set off by eating food that contains a dietary protein called gluten, a protein present in many grains that we commonly eat. The ones we are most familiar with are wheat, barley and rye.

Celiac disease mainly affects the first part of the small intestine, and the disease process is activated when the inside of the intestine comes into contact with eaten gluten. The antibodies formed by gluten attack the small intestine, and this attack process then affects absorption of foods -- those containing gluten, as well as food mixed with gluten foods -- causing rapid passage of food through the gut, frequent bowel movements or diarrhea. In the normal intestinal lining, tiny finger-like projections called villi [vil´i] that enable the small intestine to absorb nutrients from food are present in the intestine and help us absorb nutrients from the food we eat. In celiac disease, they are gone!

For many years, celiac disease was considered a rare childhood disease. With more frequent use of blood tests that include antibody screening, which is reviewed below, and increasing use of biopsy of the inside of the intestine (to look for the presence or absence of villi), there is a clear trend showing celiac disease is on the rise. Celiac can be found in people of any age and any ethnic group and is estimated to be found now between 0.6 and one percent of the world’s population. In the U.S., it is estimated that up to three million people have celiac disease, but only around 40,000 have been diagnosed.

In typical celiac disease, the intestinal symptoms seem to follow the amount of injury and inflammation to the small intestine. The typical celiac symptoms can include either a chronic or recurrent diarrhea, abdominal distention, flatulence, weight loss, cramps and vomiting. But this so-called typical picture is really not so typical, as these symptoms are found in only one out of seven people with celiac disease.

The symptoms and findings that are not gut symptoms, yet can be frequently seen, are anemia (low red blood cells) due to lack of iron absorption; a very specific itchy skin rash called dermatitis herpetiformis [her-pe-te-for-mes]; osteoporosis (thin bones); inability to have children (infertility); abnormal liver function tests; anxiety; and even depression. Unfortunately, cancer -- specifically lymphoma or adenocarcinoma of the small intestine can be a result of untreated celiac disease.

Your genes play an important role in the potential risk for development of this disease. Celiac disease is present in approximately 10 percent of first-degree relatives (parents, brothers, sisters) of anyone with a known diagnosis of celiac disorder. Also, if you already have an autoimmune disorder such as diabetes mellitus type 1, you should be tested for celiac, as multiple autoimmune conditions very often can be found to be present in the same person.

There are many steps that can go into the evaluation of celiac disease, but blood testing is essential for initial celiac disease screening. These blood tests measure antibodies, usually IgA or IgG, that are made by immune cells to two main proteins. A protein enzyme called tissue transglutaminase [tranz-glü-tam- -naz] (TTG) is found in many cells of our body and is released from the damaged intestine during active celiac disease. IgA antitissue transglutaminase antibody is recommended for initial testing, if you make IgA. Alternatively, the presence of IgG anti-tissue transglutaminase antibody can be tested in people with IgA deficiency. But biopsy of the small intestine is highly recommended to confirm the diagnosis in most patients with suspected celiac disease from initial screening. When antibody results and biopsy do not give a clear answer as to whether celiac is present, or when a person is already on a gluten-free diet, which can make antibody levels fall to normal, gene testing can be ordered to help make the diagnosis. This testing is very specific and often requires special consideration to be covered by insurance, so this is something to discuss with your doctor.

Celiac disease has no cure, but given the strong evidence linking gluten to the disease, you can control celiac by eliminating gluten proteins from your diet. When gluten is removed from the diet, the small intestine starts to heal and symptoms begin to go away rapidly.

It can be challenging to follow a strict gluten-free diet for life. Fortunately, there are many glutenfree products on the market. Since 2007, the U.S. Food and Drug Administration (FDA) has been working on rules to govern “gluten-free” labeling and to define a safe gluten threshold. In the future, we may see other treatments such as glutendigesting enzymes or even genetic modification of wheat that could be tolerated by your gut, even if you have celiac disease.

In addition to a gluten-free diet, an annual visit to your doctor to monitor celiac disease antibody levels and conditions associated with celiac disease such as osteoporosis, anemia and autoimmune thyroid disease is recommended.

Dr. Jean Jacques Nya-Ngatchou is a third-year Fellow in Endocrinology, Diabetes and Metabolism at the University of Washington. He received his training in internal medicine at Overlook Hospital in Summit, NJ where he was awarded Outstanding Achievement in Clinical Science and Humanism in the Practice of Medicine. Dr. Nya-Ngatchou has published in peer-reviewed medical journals during his fellowship and has presented abstracts and posters on male reproduction at the Endocrine Society, where he received the Endocrine Society Minority Mentoring Poster Award in June 2012. His research interests include male contraception and finding novel methods to improve male fertility.