Diagnosing Celiac Disease: The Challenges

Aug 02, 2022

Celiac disease is an autoimmune disease that is triggered by eating gluten. Over 2 million people in the U.S. are living with celiac disease and experts estimate that up to 80% of these people have not been diagnosed.

Celiac disease is an autoimmune disease that is triggered by eating gluten. Over 2 million people in the U.S. are living with celiac disease and experts estimate that up to 80% of these people have not been diagnosed. This is alarming because of the long-term health consequences of untreated celiac disease. Symptoms can vary greatly from patient to patient which sometimes makes diagnosis challenging for doctors.

Gluten is a protein found in wheat, rye, barley and some oats. When a person with celiac disease eats gluten, the immune system attacks the lining of the small intestine. Damage to this lining leads to decreased absorption of nutrients necessary for optimum health.

Celiac disease can be difficult to diagnose

There are many reasons why we believe celiac disease is underdiagnosed. Each person may have different symptoms as well as a different number of symptoms. There are over 200 symptoms which may occur anywhere in the body. Not all of these symptoms are related to the digestive tract. To further complicate diagnosis, some people exhibit very mild or even no symptoms (these people are still at risk of developing long-term complications including a small chance of developing intestinal lymphoma and gastrointestinal cancers).

Celiac disease can often be confused with other conditions. For example, many of the symptoms mimic symptoms of IBS, Crohn’s disease or food intolerance.

The age of onset varies greatly. We often see different symptoms in children when compared to adults.

Symptoms of celiac disease in adults

Children are more likely to experience digestive symptoms than adults. Less than one-half of adults will have digestive symptoms that indicate malabsorption: diarrhea, weight loss and pale, foul-smelling stool. Adults are more likely to have mild digestive symptoms and other unrelated symptoms.

As mentioned above, there are over 200 symptoms that adults with celiac disease may experience. Some of the more common symptoms include:

  1. Diarrhea
  2. Weight loss
  3. Pale, foul-smelling, fatty stool
  4. Bloating and abdominal pain
  5. Constipation
  6. Vomiting
  7. GERD or chronic acid reflux
  8. Anemia due to iron deficiency
  9. Vitamin B deficiency
  10. Bone loss (osteoporosis or osteopenia)
  11. Frequent headaches or migraines
  12. Neurological problems including seizures and peripheral neuropathy (numbness and tingling of hands and feet)
  13. Joint pain
  14. Fatigue
  15. Irregular menstruation
  16. Unexplained infertility or more than one miscarriage
  17. Skin rash called dermatitis herpetiformis
  18. Depression and/or anxiety
  19. Liver disorders
  20. Damage to tooth enamel
  21. Canker sores in the mouth

Testing for celiac disease

Talk with your physician if you are concerned that you may have celiac disease. Tell your physician about all symptoms as well as your personal medical history. Also share your family history. If you have a first-degree relative (parent, sibling, child) who has celiac disease, then you will need to be tested because you are at increased risk of also developing the disease.

The only way to know if you have celiac disease is to be tested. DO NOT follow a gluten-free diet prior to testing. You must be eating gluten in order for the testing to be accurate. A blood test is usually the first step. If the blood test suggests celiac disease, then your physician may recommend an endoscopic biopsy of the small intestine to confirm the diagnosis. This endoscopy will be performed by a gastroenterologist.

Treatment for celiac disease

If diagnosed with celiac disease, you must follow a gluten-free diet and also avoid medications, supplements and products that may contain gluten. Your physician will guide you on getting started. A consult with a dietician is usually recommended. You can also search online to learn more. Here are a few helpful links:

Celiac Disease Foundation

Beyond Celiac

Eatright: Academy of Nutrition and Dietetics

The physicians at Richmond Gastroenterology Associates diagnose and treat celiac disease. Contact us to schedule an appointment.

Disclaimer: This blog article is intended to be informative and is not medical advice.