Healthy Living

How is Celiac Disease Diagnosed?

How is Celiac Disease Diagnosed?

Key Takeaways

  • Celiac disease causes patients to digest gluten improperly, therefore damaging their small intestines
  • The most conclusive way to diagnose celiac disease and the only way to be positive of your diagnosis is through an endoscopic biopsy
  • Genetic testing may also be helpful when combined with other diagnostic tests
  • Patients should always consult a doctor if they believe they may have celiac disease

Definition

Celiac disease is an autoimmune disorder that leads to the damage in the lining of the small intestine when exposed to gluten in certain foods. People who have celiac disease are unable to properly digest gluten, a protein found in wheat, rye, and barley. In these individuals, the damage that results from eating gluten makes it difficult for them to absorb other nutrients, such as calcium, vitamin D, folic acid, and iron.

Who Gets Celiac Disease and Why? 

Millions of people around the world are believed to be suffering from this disease, including approximately 1 percent of people in the United States. It afflicts people of all ages and is particularly common among Caucasians. However, scientists still have not been able to pinpoint an exact reason for why some people get it and others don’t. Many people aren’t aware that they have the disease and continue to damage their intestines by consuming foods containing gluten. Self-diagnosis is often difficult, because the symptoms of celiac disease closely mimic common digestive complaints.

What Are the Common Symptoms?

The signs and symptoms of celiac disease vary greatly in both children and adults. Moreover, it is also reported that some people may not experience any symptoms but still are confirmed positive on the Celiac Disease Blood Test, whereas, in a few others, the test results reveal them as negative, but they may be a victim of intestinal biopsy.

Signs and Symptoms in Children:

Below 2 Years of Age

  • Nausea and vomiting
  • Chronic diarrhea
  • Loss of appetite
  • Failure to Thrive (FTT), a condition in which the insufficient gain or loss in height and weight is experienced which do not match the standard growth rates
  • Muscle atrophy or muscle wasting
  • Abdominal bloating/swelling with pain

Above 2 years of Age

  • Diarrhea or dysentery
  • Constipation
  • Loss in weight
  • Delayed growth leading to short stature and late attainment of puberty
  • Pale and foul-smelling stool
  • Irritability and fatigue
  • Neurological symptoms, like headaches, ADHD (Attention Deficit Hyperactivity Disorder), seizures, ataxia (lack of muscular coordination), etc.

Signs and Symptoms in Adults:

The most common symptoms in adults include diarrhea, fatigue, weight loss, abdominal bloating, stomach gas, nausea, vomiting, constipation, and pain in the digestive system. However, more than half of adults with celiac disease are likely to develop symptoms that are not associated with the digestive system, and these include:

  • Pain in bones or joints
  • Frequent headaches and weakness
  • Anemia due to iron deficiency
  • Bone disorders, like osteomalacia or rickets (softening of bones), arthritis, and osteoporosis (loss of bone density)
  • Mouth ulcers
  • Dermatitis herpetiformis or DH (Duhring’s Disease), a condition in which itchy and fluid-filled blisters appear on the skin
  • Dental enamel defects
  • Seizures or migraines
  • Irregular menstruation
  • Reduced spleen functioning or hyposplenism
  • Acid reflux, a digestive disease in which the bile irritates the lining of the food pipe, which leads to heartburn
  • Nervous system disorders, leading to numbness and tingling in the hands and feet, cognitive impairment, and balance problems

How Can I Be Diagnosed with Celiac Disease? 

  • Endoscopic Biopsy: As of now, the only way to conclusively diagnose celiac disease is to have an endoscopic biopsy. During the endoscopy, a small tube containing a camera is carefully guided through the digestive tract by a gastroenterologist. Once the camera arrives at the small intestine, a physician can then examine the duodenum (the first part of the small intestine immediately beyond the stomach) and collect tissue samples. These samples are then evaluated by a pathologist to see if evidence of celiac disease is present. Unfortunately, many persons who have the disease do not have this crucial procedure done for a long period of time, and therefore it may take them 6 to 10 years to finally receive a diagnosis.
  • Blood Testing: There are also simple blood tests that can be done to help screen for celiac disease. The Tissue Transglutaminase Antibodies (tTG-IgA) test is regarded as the most accurate of these tests and is used to screen for antibodies produced by celiac disease. People who have celiac disease that continue to eat gluten will have higher than normal levels of these antibodies in their blood. However, anyone that has this blood test must eat foods that contain gluten to ensure an accurate result.
  • Genetic TestingGenetic testing can also be beneficial in receiving a diagnosis. Its primary purpose is to determine whether or not someone carries the necessary genes for the development of celiac disease. Patients suffering from celiac disease will have one or both of the genes (HLA DQ2 and DQ8) associated with the disorder. However, it is estimated that as many as 40% of all people have these genes but do not develop the symptoms. Based on the fact that only 1 percent of people have actual celiac disease, the presence of these genes cannot be used for a diagnosis on its own. Although they can be misleading, genetic tests are effective for ruling out the disease when patients that exclude gluten from their diets have inconclusive results.

When to seek advice from a doctor

It is recommended to take advice from an expert medical practitioner if an individual experiences diarrhea or digestive discomfort constantly for more than two weeks. Similarly, in the case of infants or children, immediate attention should be offered if the child appears pale, irritated with reduced growth, and foul-smelling, bulky stools or develops an inflamed belly.

Celiac disease is an inherited genetic disorder, and, thus, one should thoroughly investigate and get tested if some other member in his/her family suffered from the disease. It tends to be more common in families which have a member with Type 1 Diabetes, Rheumatoid Arthritis, Turner’s Syndrome or Down’s Syndrome, Addison’s Disease, celiac disease or dermatitis herpetiformis, thyroid disease, or colitis.

Always Consult a Doctor 

As mentioned earlier, the only definitive way to diagnose celiac disease is by having a biopsy of the small intestine performed. If you have already been diagnosed with celiac disease, it is important to stay in contact with your physician to ensure you are taking the necessary steps to curb its progression. You may also want to seek a doctor's recommendations for your family members, as their chances of having or developing the disease is probably higher with a family history.