Often described as the “clinical chameleon” because of its varied presentations, celiac disease affects nearly 1% of the U.S. population. The varied and often times nonspecific manifestations of celiac disease make it challenging to diagnosis.
Detecting celiac disease
Though celiac disease affects people differently, all people with celiac disease are at risk for long-term complication, whether or not they present symptoms. There are about 300 known symptoms that may affect the digestive system and other parts of the body.
Common presentations of celiac disease in children
- Irritability and behavioral issues
- Chronic diarrhea
- Weight loss
- Delayed puberty and growth
- Short stature
- Attention Deficit Hyperactivity Disorder (ADHD)
- Dental enamel defects of permanent teeth
- Pale, foul-smelling, or fatty stool
- Abdominal pain or bloating
Though adults are less likely to experience digestive symptoms, there are distinct manifestations of celiac disease in adults.
Common signs of celiac disease in adults
- Unexplained iron deficiencies or anemia
- Fatigue, weakness
- Depression or anxiety
- Tingling numbness in the hands and feet
- Abdominal pain or bloating
- Bone or joint pain
- Early osteoporosis
- Unexplained infertility or recurrent miscarriages
- Missed menstrual periods
When to test for celiac disease
Population studies are finding that celiac disease does not discriminate. This autoimmune disorder affects all ages, genders, and ethnicities. However, there are groups of patients that have a higher incidence of celiac disease diagnosis.
These patient populations include:
- Family history of celiac disease. Celiac disease has been shown to run in families, so patients with a first-degree relative diagnosed with celiac disease should undergo screening. This is especially true for patients experiencing digestive symptoms.
- Unexplained iron deficiency with or without anemia in premenopausal women. It is not uncommon for menstruating female patients to suffer from low iron levels, and even anemia. Yet, celiac screening should be conducted to rule out iron malabsorption from celiac disease.
- Certain autoimmune diseases. One autoimmune disease often brings another. Common autoimmune disorders that patients with celiac disease share include autoimmune liver diseases, inflammatory bowel disease, microscopic colitis, and thyroiditis, to name a few.
- IBS-M (irritable bowel syndrome, mixed type) and IBS-D (diarrhea- type). Celiac disease is found more commonly in patients who carry a diagnosis of these IBS subsets, in particular.
- Patients with Type 1 diabetes mellitus (DM). Even without any digestive signs or symptoms, patients with Type 1 diabetes mellitus should be screened for celiac disease.
What are the best screening tests for celiac disease?
A medical history review, physical exam, and a series of lab tests are used to diagnosis celiac disease.
Tissue transglutaminase Antibodies (tTG-IgA) screening test
A tissue transglutaminase (tTG-IgA) screening test is used when individuals fall in a risk group for celiac disease, as it is the most sensitive test available. According to the Celiac Disease Foundation, this test will be positive in about 98% of patients with celiac disease who are on a gluten-containing diet.
Blood antibody tests
Antibodies are produced by the immune system in response to substances the body perceives to be threatening. To help diagnosis celiac disease, blood tests are given to measure certain levels of antibodies. These antibodies include:
- Anti-tissue transglutaminase (tTG)
- Anti-endomysium (EMA); and
- Anti-deamidated gliadin peptides (GDP)
Keep in mind that positive antibody test results only suggest the presence of celiac disease. If these screening tests come back positive, the next step in diagnosing celiac disease is to get a biopsy of the small intestine through an upper gastrointestinal endoscopy.
Although celiac disease is relatively common (Remember: it affects about 3 million people in the U.S. alone), most people who have the disease are not aware of it. If you fall in one of the at-risk populations outlined above, talk to your physician about testing for celiac disease, especially if you have experienced any symptoms associated with the disease.