Diagnosing Celiac Disease

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Celiac disease is a disorder in which an immune response is triggered by your body when you consume gluten. Gluten is a protein that is found in barley, wheat, and rye. If you have celiac disease, consuming these products will cause a negative immune response in your small intestine. This negative reaction, over time, will cause inflammation in the small intestine, which does damage to the lining and ultimately keeps your body from absorbing necessary nutrients, vitamins, and minerals.

This damage can ultimately result in extreme weight loss, diarrhea, and bloating. Eventually, other parts of your body will be affected because they are being deprived of the nutrients necessary to function properly. This includes your nervous system, brain, bones, liver, and more. In children with celiac disease, their growth and development can be negatively impacted. The irritation in the intestine can cause severe stomach pain- especially after eating.

As of yet, there has been no cure found for celiac disease. The only way to manage the signs and symptoms and therefore promote healing of your intestines is to follow a very strict, gluten free diet.

How is Celiac Disease Diagnosed

If you feel that you may have celiac disease, you must not begin a gluten-free diet until you have seen your physician. If you cut gluten out of your diet, you could affect the results of the tests- meaning the disease may not even show up.

When you are working with your doctor to diagnose or to confirm a diagnosis of celiac disease, there are three major steps that must be taken.

  • A thorough physical exam- including blood tests. These are sometimes called “celiac blood panels”
  • A duodenal biopsy- multiple samples taken from multiple locations in your small intestine
  • Implementation of a gluten-free diet. If your symptoms begin to subside and your small intestine returns to its normal, healthy state, the diagnosis of celiac disease can be officially confirmed.

As mentioned before, the gluten-free diet should be the last thing done- only after the first two steps have been successfully completed. Otherwise, your physician will be unable to confirm the diagnosis of celiac disease through the biopsy.

Patient History

When your physician is reviewing your medical history and symptoms, the following questions are most likely to be asked

  • What are your symptoms? How long have you been experiencing them? How often do you experience them?
  • What is your emotional state? Are you pretty consistent throughout the day? When and how long do your symptoms occur?
  • Is there anything else involved? Do you have any other diseases/conditions? Is there anything else that hurts?
  • For children only: How well is the child developing and growing?

Physical Exam

Depending on the presence of symptoms, the physician may check the following things:

  • Pallor- could be pale due to anemia
  • Emaciation
  • Low blood pressure, or hypotension
  • Dermatitis Herpetiformis (skin lesions that associated with celiac disease)
  • Edema
  • Changes in bone, skin, or mucosa due to vitamin/mineral deficiencies
  • Bruising easily- due to a lack of vitamin K
  • Loss of sensation in the extremities
  • Distended/Protruding abdomen

Other signs of severe vitamin and/or mineral deficiencies, including:

  • Muscle spasm- due to a calcium/magnesium deficiency
  • Tenderness and pain in the bones- due to osteomalacia
  • Diminished tendon reflexes

Diagnosing Celiac Disease

Blood Tests for Celiac Disease

There is no standard for current celiac disease tests. There is a number of tests, referred to as a “celiac blood panel,” which will assist the physician in accurately diagnosing celiac disease. These tests could include, but are not limited to:

  • EMA
  • AGA
  • Serologic Tests
  • DGP
  • Tolerance/Measure of Digestion/Absorption
  • tTGA
  • Lactose tolerance test
  • D-Xylose test
  • Deamidated gliadin peptide

A rational combination of testing can help to identify those patients who need an intestinal biopsy to confirm the diagnosis of celiac disease.

There has been a home test kit for celiac disease that was recently approved and made available in Canada. However, it isn’t currently available in the USA. Even if the test does become available in the USA, it is not meant to replace the biopsy, but to simply confirm whether or not you will need a biopsy done.

Small Intestine Biopsy

If the clinical signs and lab tests indicate that malabsorption is probably, then a biopsy of the small intestine is needed. In this test, a flexible, small biopsy instrument will be passed through a tube, down your throat, and into the stomach. Finally, in the upper end of the small intestine, multiple small, patchy snippets of tissue will be gathered. The tube will then be removed and the tissue samples examined under a microscope for any signs of injury.

The difference between the tissue from a normal small intestine and the tissue from the small intestine of an individual with celiac disease is pretty amazing. The villi (finger-like projections) are either partially or totally flattened in the individual with celiac disease. The villi are there to increase the absorption of vitamins and minerals. Additionally, the enzymes located on the border are drastically reduced. One example of these border enzymes is lactase, which is responsible for breaking down lactose. This offers an explanation as to why those with celiac disease also have an intolerance to milk and dairy products- and ultimately develop lactose intolerance.

Finally, elevated T-cell lymphocytes are present. The biopsy of the small intestine of an individual with dermatitis Herpetiformis often show very similar damage.

Gluten Free Diet

The final stage of diagnosing celiac disease is the implementation of the gluten-free diet. If the patient’s health improves upon the implementation of this diet, then the diagnosis is official. When gluten is completely removed from the diet, the damage done to the small intestine begins to repair. It takes about three to six days for the intestinal lining to begin showing improvement. Within three to six months, most of the symptoms will subside as the lining begins to return to its normal (or almost normal) state.

However, if after six months of following a gluten-free diet, the symptoms are still present, the following questions must be asked:

  • Has gluten truly been eliminated from every area of your life and diet?
  • Are there unrelated health conditions present that could be contributing to or causing the continued discomfort?

The great news is that a gluten free diet is totally risk free. Gluten is simply a protein and is not necessary for a healthy diet. The amino acids contained in gluten are easily replaced by other foods. Adopting a completely gluten free diet can only result in an improvement in overall health and well-being.

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