08-11-2023 Healthcare

Everything You Need to Know About Celiac Disease

By Jillian Foglesong Stabile, MD

Celiac disease is a chronic autoimmune disorder that causes digestive and intestinal problems. Celiac disease is generally triggered by foods that contain gluten. Gluten is a protein found in wheat, barley, and rye. Gluten can be found in many foods as well as many other products such as cosmetics, personal care products, and supplements. Celiac disease is also known as celiac sprue, nontropical sprue, and gluten-sensitive enteropathy. This autoimmune disease occurs in around 1% of people worldwide.

Celiac Disease vs. Gluten Sensitivity vs. Grain Allergy

Celiac disease should not be confused with gluten sensitivity. Gluten sensitivity can make you feel really crummy, but it doesn’t cause permanent damage to the intestines as celiac does. Gluten-sensitive individuals may have bloating and abdominal pain in addition to feeling tired, feeling sluggish, and brain fog. Grain allergy may cause rapid severe symptoms including hives, shortness of breath, lightheadedness, or vomiting. In severe cases, grain allergies can cause anaphylaxis.

Who Gets Celiac Disease?

Celiac is more common in Caucasians of European descent. It is also more common in type 1 diabetics (2-5 times higher risk), people with Down syndrome (8 times increased risk), Williams syndrome (8 times increased risk), Turner syndrome (6 times increased risk), other autoimmune diseases (3 times increased risk), infertility, or irritable bowel syndrome with diabetes. There is a link between thyroid disease and celiac disease. People with Hashimoto’s thyroiditis are 5 times more likely to develop celiac disease. Patients with selective immunoglobulin A (IgA) deficiency, an immune system disorder, are also at an increased risk. Certain liver diseases may also increase your risk of celiac disease. Celiac disease is twice as common in women compared to men.

What Causes Celiac Disease?

Celiac disease has genetic links. People with a parent, child, or sibling with celiac disease have a 1 in 10 risk of developing celiac disease. A second-degree relative increases your risk 3-6 times above the baseline risks. Certain things may trigger the symptoms to begin. Stress, pregnancy, surgery, physical injury, infection, and childbirth can all bring on the onset of symptoms.

Two specific gene variants are commonly associated with celiac disease. These are called DQ2 and DQ8. Without these variants, it is very unlikely that you will develop celiac disease. About 3 percent of people with the DQ2 and DQ8 gene variants develop celiac disease. These gene variants are present in about 30 percent of people.

What Are the Symptoms of Celiac Disease?

The clinical symptoms of celiac disease are separated into intestinal and extraintestinal (outside of the intestines). Many patients with celiac disease don’t have symptoms early on. It is estimated that only 30 percent of patients with celiac disease have been diagnosed. This is, in part, because celiac disease symptoms are very similar to the symptoms of other gastrointestinal conditions.

Intestinal Manifestations of Celiac Disease

Lactose intolerance, malabsorption, and nutritional deficiencies are the primary source of intestinal manifestations of celiac disease. Lactose intolerance causes bloating and diarrhea associated with the ingestion of foods that contain milk and the milk sugar lactose. Malabsorption can cause diarrhea, weight loss, abdominal bloating, and gas. Nutritional deficiencies can cause a variety of symptoms, but the vitamins most frequently affected are vitamins A, D, E, K, and B vitamins, as well as iron, calcium, other minerals, and folic acid.

Extraintestinal Manifestations of Celiac Disease

The extraintestinal manifestations of celiac disease vary based on the organ system affected:

Anemia or low red blood cell counts usually present due to malabsorption of some of the vitamins and minerals which are used to make red blood cells. Iron, folic acid, and vitamin B12 are the primary vitamins and minerals used by the body to make red blood cells.
Dermatitis herpetiformis is an autoimmune skin condition that occurs in response to gluten ingestion. It causes a rash on the extensor surfaces such as the back of the elbows and the front of the knees.
Elevated liver function tests occur in 20-40 percent of patients. Other liver function issues include autoimmune hepatitis, primary sclerosing cholangitis, and primary biliary cirrhosis.
Celiac disease increases the risk for some types of lymphoma as well as hepatobiliary cancers and some intestinal cancers.
Several neurologic abnormalities are associated with celiac disease. Peripheral neuropathy and abnormalities in walking are associated with celiac disease. People with celiac are also at an increased risk of seizures and impaired cognitive function.
The malabsorption associated with celiac disease is also associated with dental enamel problems, ulcers, cracks in the corners of the mouth, white plaques, loss of taste buds, and delayed tooth eruption in children.
About one-third of patients with celiac disease have osteoporosis and one-third have osteopenia. This is thought to be related to poor calcium and vitamin D absorption. Even without osteoporosis, there is an increased risk of fractures in patients with celiac disease.
There are several blood-related abnormalities associated with celiac disease in addition to anemia. Low or high platelet counts, low white blood cell counts, decreased spleen function, and bleeding disorders (from low vitamin K absorption). These abnormalities are less common than anemia.
Celiac disease also affects the reproductive system. It can cause delayed onset of menses, secondary amenorrhea, earlier menopause, and infertility or subfertility in men and women.

How Exactly Does Celiac Disease Damage the Intestine?

Your intestine has multiple small, finger-like projections that are responsible for absorbing nutrients. In people with celiac disease, the body forms antibodies in response to exposure to gluten. These antibodies attack the villi in the intestine and cause them to become inflamed and then die off. This condition is called villous atrophy. When the villi aren’t able to absorb nutrients, you become chronically malnourished. Most of the other manifestations of celiac disease are related to the malabsorption of nutrients from the death of the villi.

How is Celiac Disease Diagnosed?

Diagnosis of celiac disease starts with a detailed history and physical. The history should include questions about symptoms of some of the other conditions associated with celiac disease. It will also include a family history looking for celiac or other celiac-associated conditions. Celiac disease can’t be diagnosed by symptoms alone because the symptoms so closely mimic other diseases. The physical exam involves looking for signs of weight loss or growth problems, looking for rashes, and an abdominal exam. Your dentist may also see signs such as weak tooth enamel or oral sores.

Blood Tests for Celiac Disease

The main blood tests for celiac disease are anti-tissue trans-glutaminase (anti-tTG), anti-endomysial antibody, and deamidated gliadin peptide (DGP). The preferred test is anti-tTG. The DGP is less accurate than the anti-tTG and is used more in children under age 2. Anti-endomysial antibody is difficult to perform, so it is used less frequently even though it may be more sensitive. The British Society of Gastroenterology recommends doing serial testing.

Genetic Tests for Celiac Disease

Your healthcare provider may recommend testing for the DQ2 and DQ8 genes. While having this gene doesn’t make the diagnosis of celiac disease, it can help rule out the disease. It is unlikely that you will develop celiac disease if you do not have this testing.

Biopsies for Celiac Disease

Patients who have a rash that might be dermatitis herpetiformis may benefit from a skin biopsy. The microscopic changes associated with this rash are pretty specific. The gold standard test for celiac disease is a small intestinal biopsy. This can be done during either an upper or lower endoscopy. Most commonly, it’s done during an upper endoscopy. This procedure involves the doctor putting a flexible tube with a camera down the throat into the stomach and the first or second part of the small intestine. Biopsy forceps are passed through the tube to allow samples of tissue to be taken for examination under a microscope.

The Four Out of Five Rule

One proposed criterion for making the diagnosis of celiac disease is the four out of five rule. The diagnosis is made when four out of the five criteria are met. These criteria are:

Classic signs and symptoms
Antibody positivity
HLA-DQ2 and/or HLA DQ8
Intestinal damage on biopsy specimen
Improvement with a gluten-free diet

Treatment for Celiac Disease

Currently, the primary and only effective treatment for celiac disease is a gluten-free diet for life. This requires strict avoidance of all foods that contain gluten including wheat, barley, and rye. It also requires strict avoidance of gluten in other foods such as some types of oatmeal and soy sauce. Reading labels is extremely important for patients with celiac disease because gluten is present in more foods than you think. And foods can be cross-contaminated with gluten as well. Gluten may also be present in personal care products.

About 20 percent of patients will have ongoing symptoms even with a gluten-free diet. Generally, either the diagnosis is wrong or the patient is non-compliant with the diet (or has been exposed to cross-contamination). There are some subtypes of celiac disease that are refractory to treatment. These are sometimes treated with medications such as azathioprine or steroids. There are also new treatments in development.

Patients with celiac disease may need more frequent follow-ups and evaluation for other conditions which are associated with celiac such as thyroid disease and osteoporosis. You may also need mineral or vitamin supplementation to help with these potential complications.

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Dr. Foglesong Stabile is a board-certified Family Physician who enjoys full scope Family Medicine, including obstetrics, women’s health, and endoscopy, as well as caring for children and adults of all ages. She also teaches the family medicine clerkship for Pacific Northwest University of Health Sciences.

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