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How to diagnose celiac disease

There are two steps to finding out if you have celiac disease: testing and diagnosis. You should always consult with a physician experienced with celiac disease to ensure proper diagnosis.

Testing

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Diagnosis

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How to diagnose celiac disease

Permanent gluten intolerance , known as celiac disease is an autoimmune disease that causes inflammation in an area close to the small intestine which increases every time you consume gliadin, a vegetable protein in various grains such as wheat, spelt or kamut. Celiacs present different symptoms each time they eat food with gluten, showing an intense discomfort that may actually cause malnutrition and affect the proper development and growth for young children. If you suspect that you or someone close to you has this condition, on OneHowTo.com we explain how to know if you are celiac explaining the symptoms of this disease.

Celiac disease occurs in people who have a genetic predisposition to be gluten intolerant, so it is common for this condition to often be directly transferred to another relative. It can occur at any age, from early childhood to adulthood.

Being celiac is not the same as being allergic to gluten, as it is a different condition with different symptoms.

One of the first symptoms characterizing celiac disease is pain and abdominal discomfort, accompanied by swelling in the belly, two typical features related to digestion disorders.

How to diagnose celiac disease

Celiacs are unable to digest gluten properly – often they have diarrhoea when they ingest this protein, so their bowel movements are usually liquid and frequent. Sometimes vomiting also occurs.

Weight loss is another important signal that, together with the above symptoms may indicate that you are celiac. In the case of children, stunted growth due to malnutrition associated with this condition is also present.

Mood swings are another sign that may indicate that you are celiac. Irritability, depression and sudden changes in mood are also symptoms of this condition due to the discomfort caused by untreated symptoms.

Chronic fatigue is another symptom of celiac disease, because due to nutritional problems resulting from this condition the patient does not have the energy to face the day in the best way.

Because celiac disease leads to loss of villi (small protrusions in the lining of the small intestine), many of the nutrients we eat may not be absorbed properly. Celiacs therefore often have deficiencies of vitamin B12, vitamin D and iron, which can lead to iron deficiency anaemia.

Other signals that may indicate you are celiac are:

  • Lack of appetite
  • Rashes
  • Muscle cramps
  • Malnutrition
  • Delayed onset of the first period in the case of pre teen girls
  • Fertility problems or recurrent miscarriages

If you present several of these symptoms it is very important to see your doctor and undergo the medical tests that help diagnose celiac disease.

There is a treatment for Celiac disease that helps the patient regain villi in the small intestine, dramatically improving health and eliminating all symptoms. But this is only possible by completely eliminating gluten from the diet which can mean radical changes in the type of food you eat.

Always remember that for any final and proper diagnosis you should consult a medical professional.

How to diagnose celiac disease

This article is merely informative, oneHOWTO does not have the authority to prescribe any medical treatments or create a diagnosis. We invite you to visit your doctor if you have any type of condition or pain.

If you want to read similar articles to How to Diagnose Celiac Disease, we recommend you visit our Diseases & secondary effects category.

An estimated 83% of Americans with the disease are not currently diagnosed.

How to diagnose celiac disease

A gluten-free diet may help those with celiac disease manage the condition. (Photo: iStock)

Gluten-free diets are rising in popularity due in part to the perception that eliminating gluten is healthy. But for many, a gluten-free diet is not a choice. For people suffering from celiac disease, removing gluten from their diet is necessary to manage the condition.

What is celiac disease?

Celiac disease is a digestive disorder that affects the small intestine and usually requires a visit to a gastroenterologist for testing and diagnosis. If you suffer from celiac disease, your body is unable to digest gluten, a protein found in wheat, rye and barley.

According to the Celiac Disease Foundation, an estimated 1% of the American population has the disease, yet 83% of those individuals are either undiagnosed or have been misdiagnosed with a different disorder.

Learning the symptoms of celiac disease can help prepare you to speak with a gastroenterologist, lead you to the correct diagnosis, and better equip you to manage the condition.

Symptoms of celiac disease

The symptoms of celiac disease vary and have the potential to be confused with other health issues. Plus, symptoms can be different in adults and children.

“It’s easy to mistake the symptoms of celiac disease for another condition, possibly even a non-digestive disorder,” said Dr. Robert Walker, a gastroenterologist at Crystal Run Healthcare. “That’s why it’s important to make note of any symptoms you’re experiencing and discuss them with your doctor. Your primary care provider will be able to determine if an appointment with a gastroenterologist and further testing is needed.”

How to diagnose celiac disease

Dr. Robert Walker, a gastroenterologist at Crystal Run Healthcare. (Photo: Crystal Run Healthcare)

Adults can have a number of celiac disease symptoms that are both related and unrelated to digestion; however, adults are more likely to experience non-digestion-related symptoms.

Digestion-related symptoms in adults include:

— Nausea and vomiting.

— Bloating and gas.

Non-digestion-related symptoms in adults include:

— Hyposplenism, or reduced function of the spleen.

— Itchy, blistering skin rash.

— Numbness and tingling in the feet and hands, balance problems, and cognitive impairment.

— Osteoporosis or osteomalacia, a disease that softens the bones.

Children with celiac disease, on the other hand, are more likely to experience digestion-related symptoms.

Digestion-related symptoms in children include:

— Nausea and vomiting.

— Pale, foul-smelling bowel movements.

Non-digestion-related symptoms in children include:

— In infants, failure to thrive.

— Neurological problems, which can include attention deficit hyperactivity disorder, headaches, learning disabilities, seizures and lack of muscle coordination.

If you or your child are experiencing any of these symptoms, discuss them with your primary care provider, or make an appointment to meet with a gastroenterologist.

Celiac disease management at Crystal Run Healthcare

The first step to managing celiac disease is to get diagnosed. Crystal Run Healthcare’s gastroenterologists test for digestive disorders such as celiac disease to help manage and treat your condition. No one should have to suffer from digestive disorders. Speak with your physician to find the relief you deserve.

Crystal Run’s exceptional team of fellowship-trained gastroenterologists diagnose and treat everything from digestive disorders to colon cancer, and perform colonoscopies, upper endoscopies and other same-day gastrointestinal procedures in the practice’s on-site endoscopy suite. Working together with highly specialized Montefiore-based physicians in Crystal Run’s West Nyack office, doctors can give patients access to clinical trials and advanced, research-based treatments if needed.

To schedule an appointment with a gastroenterologist or learn more about Crystal Run Healthcare, visit crystalrunhealthcare.com and follow the practice on Twitter, LinkedIn and Facebook.

Members of the editorial and news staff of the USA TODAY Network were not involved in the creation of this content.

Affiliation

  • 1 Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. [email protected]
  • PMID: 16936366
  • DOI: 10.1007/BF02898449
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Authors

Affiliation

  • 1 Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. [email protected]
  • PMID: 16936366
  • DOI: 10.1007/BF02898449

Abstract

Celiac disease is an immune mediated enteropathy initiated by ingestion of gluten, in genetically susceptible individuals. With changing epidemiology, celiac disease initially thought to affect only Europeans, has been increasingly reported from other parts of the world including India. However, its true prevalence in India is still not known, as the diagnosis is being missed. The gold standards for diagnosis have been characteristic small intestinal mucosal changes on gluten and a full clinical remission on its removal from the diet. Presence of serological antibodies, which disappear on gluten free diet further confirms the diagnosis. The understanding of the histopathology of celiac disease has changed over the years. The small bowel mucosal lesion of celiac disease is an evolutionary process with normal mucosal architecture and an increase in intraepithelial lymphocytes at one end of the spectrum and classical flat mucosa at the other. In the Indian subcontinent celiac disease has a heterogeneous histological presentation and the diagnosis may be missed if it is based only on severe mucosal changes or the serology is not considered when moderate or mild mucosal changes are present. The last two decades have shown that antiendomysical (Anti EMA) and anti tissue transglutaminase antibodies (anti-tTGA) have a sensitivity and specificity of more than 95% to diagnose celiac disease. Anti EMA tests being operator dependent are more liable to errors and anti- tTGA may be preferred for large scale screening. However, the different source of tTGA antigen, varied techniques of production and the use of arbitrary units by different commercial kits can influence the diagnostic accuracy of the anti-tTGA assay. There is a strong genetic association of celiac disease with HLA-DQ2 or DQ8. The presence of HLA-DQ2 hetrodimer in more than 97% of a group of North Indian patients with celiac disease indicates that this population has a similar genetic risk for the disease. HLA DQ2 typing can be used for ruling out celiac disease where the diagnosis is equivocal as it has a negative predictive value of greater than 95%. Given the protean clinical manifestation and the heterogeneous histology a standard algorithm for diagnosis of celiac disease is important.

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Q: What are the current standard tests to diagnose celiac disease?

Celiac disease (CD) is diagnosed by evaluating symptoms, conducting blood tests and a small intestinal endoscopy (biopsy).

People with CD can have many different symptoms or no symptoms at all, up to 200 symptoms are associated with CD, here are some of the most common ones:

Gastrointestinal

  • Diarrhea
  • Fatty stools
  • Constipation
  • Cramps
  • Bloating
  • Flatulence
  • Lactose intolerance
  • Acid reflux
  • Nausea
  • Vomiting

Malabsorption- related

  • Anemia-Iron deficiency
  • Vitamin deficiencies
  • Calcium malabsorption leading to osteopenia, osteoporosis
  • Protein and calorie malnutrition
  • Weight loss or muscle atrophy
  • Poor growth in children
  • Failure to thrive

Non-Gastrointestinal

  • Fatigue
  • Depression
  • Joint pain
  • Muscle aches, cramps
  • Peripheral neuropathies
  • Infertility
  • Menstrual irregularities
  • Dental abnormalities
  • Brain Fog

Blood tests: Blood is tested for celiac-specific antibodies (referred to as a celiac panel). These antibodies are proteins in the blood that are produced in response to gluten ingestion.

Here are some of the most common blood tests:

  • tTG IgA (anti-tissue transglutaminase antibody)
  • Total IgA (if deficient alternate testing may be needed)
  • EMA (anti-endomysial antibody)

Endoscopy: The next step is an endoscopy of the small intestine, also called a biopsy – this is a test to check for inflammation and damaged villi. This is considered the “gold standard” for diagnosing CD. During an endoscopy, a scope with a small camera at the end is passed down the mouth, esophagus, stomach and into the small intestine. The doctor will look for damage and inflammation and several samples are taken of the intestinal lining. 1

NOTE: Starting a GF diet before diagnosis may lead to a false negative test, therefore it is important to keep eating a gluten-containing diet through the diagnostic procedures.

You can also do genetic testing for celiac associated genes, but genetic testing will ONLY rule out CD, and cannot be used as a diagnostic test, less than 5% of those with the celiac-related genes will develop CD. The names of the genes are HLA DQ2 and HLA DQ8.

You can read more about genetic testing in these two answers by Melinda Dennis:

  1. National Celiac Association. Gluten-Free, Off to A Fresh Start. Presentation. May 4, 2018.

Note: This information is provided by NCA and Katarina Mollo MEd, RDN, LDN, NCA’s Director of Education. This information is meant for educational purposes only and is not intended to substitute for personalized medical advice or replace any medical advice provided directly to you by your health care provider. No liability is assumed by the NCA or Katarina Mollo, MEd, RDN, LDN by providing this information.