Celiac Disease

Is Testing Right for Me? I Have My Test Results

Celiac Disease

What Is Celiac Disease?

Celiac disease is a digestive system illness. It happens when gluten (wheat protein in the diet) triggers an abnormal reaction in the immune system. Damage happens to tiny finger-like fibers in the small intestine called villi. The damage can cause diarrhea, constipation, abdominal pain, vomiting, and weight loss. Children with celiac disease can have problems with growth, learning, and behavior. Celiac disease is also called celiac sprue and non-tropical sprue.

There is a lot of variation in how celiac disease presents. While it can be diagnosed at any age — from infancy to adulthood — the classic form of celiac disease usually starts at 6 to 24 months of age.

Symptoms of Celiac Disease

Some of the common symptoms of celiac disease include:

  • Problems related to the digestive (GI) tract
    • Diarrhea
    • Constipation
    • Weight loss
    • Problems growing or gaining weight
    • Vomiting
    • Abdominal pain
    • Bloating, distension or gassiness
    • Loss of appetite
    • Unexplained liver problems
  • Other signs and symptoms
    • Skin rash (dermatitis herpetiformis)
    • Low iron in the blood
    • Short stature
    • Late puberty
    • Recurrent mouth ulcers
    • Thin tooth enamel
    • Arthritis
    • Feeling tired, irritable or apathetic
    • Behavior or school performance problems

Different Types of Celiac Disease

There are a number of ways that you can be affected by celiac disease. Different types of celiac disease have been divided into a few categories. Most people fall into the first two.

Category
Main Features
Classic celiac disease Mainly digestive (GI) tract problems
Atypical celiac diseaseMainly symptoms outside the digestive (GI) tract
Silent celiac disease
Positive anitbody testing and biopsy, but no symptoms
Latent celiac diseasePositive antibody testing, negative biopsy, and no symptoms


Long-Term Health Problems

People with untreated celiac disease have an increased risk of other health problems, including:

  • Certain types of cancer, including cancer of the small and large bowel, tumors in the mouth and throat, and non-Hodgkin's lymphoma
  • Vitamin and mineral deficiencies
  •  Bone loss (osteoporosis)
  • Stunted growth
  • Autoimmune disease
  • Infertility or recurrent pregnancy loss
  • Psychiatric conditions
Next: Who Is at Risk for Celiac Disease?

Choose the option below that best describes you.

I think I might have celiac disease because I have some of the symptoms, but I haven't seen a doctor yet.

I've been tested for celiac disease, and I definitely have it.

I have had testing for celiac disease, but the results weren't clear. My doctor still isn't sure whether I have it.

I thought I had celiac disease, so I started a gluten-free diet before I had antibody or biopsy testing.

I have a close family member that has celiac disease.

I am at-risk for celiac disease because I have type I diabetes or another disease that makes me more likely to get it.

I don't have any symptoms or history of celiac disease, but I'm worried about whether I'll get it.

You told us that you think you might have celiac disease, but you haven't seen a doctor yet. A genetic test is not the first step to diagnosing celiac disease. If you have symptoms that could be celiac disease, it is important for you to see a doctor. The doctor will ask you more about your symptoms, review your family and medical history, and order tests as needed.

You told us that you definitely have celiac disease based on testing you've had done. Blood tests are often done first for celiac disease, but they can't diagnose it for sure. An intestine biopsy is the gold standard for diagnosing celiac disease.

If you've had an intestinal biopsy and the diagnosis was sure, then genetic testing is probably not useful for you. The genetic test is not used to confirm a diagnosis. Results would not tell you any more about your disease or change how your doctor treats you. You may find helpful information about your diagnosis here.

However, genetic testing may be useful for your family members. Family members of people diagnosed with Celiac disease have a higher risk for developing the disease than those with no family history. If high-risk family members have genetic testing, a normal genetic test result saves them from needing to have antibody screening every few years.

You and your relatives may want to discuss genetic testing for celiac disease with a doctor or genetic counselor.

You told us that you've had testing for celiac disease that hasn't given you a clear answer. Sometimes blood test results (antibody testing) or biopsy results are borderline. Sometimes test results disagree with each other: one test says you have celiac disease, but the other doesn't. If this is the case for you, genetic testing may be useful.

Genetic testing looks for two gene changes related to celiac disease called HLA-DQ2 and HLA-DQ8.

  • If you have genetic testing, and you don't have HLA-DQ2 or HLA-DQ8, then celiac disease is essentially ruled out for you. You and your doctor would work together to look for other reasons for your symptoms.
  • If you have genetic testing and you have HLA-DQ2 and/or HLA-DQ8, then celiac disease is more likely. Finding a gene change may "tip the scale" in favor of celiac diagnosis, but it can't make the diagnosis for sure.

Before making a decision about celiac disease genetic testing, you need to consider the benefits, limitations, and possible uses for you. Click here to explore some of the pros and cons of genetic testing in celiac disease.

You told us that you started a gluten-free diet before having testing for celiac disease. The usual tests for celiac disease are blood antibody tests and an intestinal biopsy. These tests are only accurate if you have had gluten in your diet for at least a month. You could do a gluten challenge (eat gluten for a month) and then have the testing done. However, if you are not able or willing to do that because you fear it will make you sick again, then genetic testing may be useful.

Genetic testing looks for two gene changes related to celiac disease called HLA-DQ2 and HLA-DQ8.

  • If you have genetic testing, and you don't have HLA-DQ2 or HLA-DQ8, then celiac disease is essentially ruled out for you. You and your doctor would work together to look for other reasons for your symptoms.
  • If you have genetic testing and you have HLA-DQ2 and/or HLA-DQ8, then celiac disease is more likely. Finding a gene change may "tip the scale" in favor of celiac diagnosis, but it can't make the diagnosis for sure.

Before making a decision about celiac disease genetic testing, you need to consider the benefits, limitations, and possible uses for you. Click here to explore some of the pros and cons of genetic testing in celiac disease.

You told us that you have a close family member with celiac disease. People who have relatives with celiac disease are at an increased risk to develop it as well.

Genetic testing may be useful for you. People at an increased risk for celiac disease often have antibody blood tests done every few years to screen for signs of the condition. Antibodies only show up if you are starting to develop the disease. Genetic testing looks for two gene changes related to celiac disease called HLA-DQ2 and HLA-DQ8. These don't change over time – they are the same from when you are born.

  • If you have genetic testing, and you don't have HLA-DQ2 or HLA-DQ8, then celiac disease is essentially ruled out for you. You won't need to have antibody testing to screen for celiac disease.
  • If you have genetic testing and you have HLA-DQ2 and/or HLA-DQ8, then you are still at-risk for celiac disease. These kinds of results don't mean that you'll get it – they just mean that you'll continue to need antibody screening.

Before making a decision about celiac disease genetic testing, you need to consider the benefits, limitations, and possible uses for you. Click here to explore some of the pros and cons of genetic testing in celiac disease.

You told us that you have another medical condition that makes you more likely to develop celiac disease.

Genetic testing may be useful for you. People at an increased risk for celiac disease often have antibody blood tests done every few years to screen for signs of the condition. Antibodies only show up if you are starting to develop the disease. Genetic testing looks for two gene changes related to celiac disease called HLA-DQ2 and HLA-DQ8. These don't change over time – they are the same from when you are born.

  • If you have genetic testing, and you don't have HLA-DQ2 or HLA-DQ8, then celiac disease is essentially ruled out for you. You won't need to have antibody testing to screen for celiac disease.
  • If you have genetic testing and you have HLA-DQ2 and/or HLA-DQ8, then you are still at-risk for celiac disease. These kinds of results don't mean that you'll get it – they just mean that you'll continue to need antibody screening.

Before making a decision about celiac disease genetic testing, you need to consider the benefits, limitations, and possible uses for you. Click here to explore some of the pros and cons of genetic testing in celiac disease.

You told us that you are worried about getting celiac disease even though you don't have any symptoms or risk factors for it. While genetic testing is technically possible for you, it generally isn't recommended. A normal test result is useful: it would mean that you have a very small chance to ever get celiac disease. However, a positive test result isn't that useful. Even if you have one of the celiac-related HLA variants, you may never get celiac disease. The only way to prevent celiac disease is to follow a gluten-free diet. Doctors don't generally recommend that kind of diet restriction unless there is a good health reason.

You may wish to talk to a doctor who can address your concerns and answer your questions.