Is celiac disease hereditary?

Katarina Mollo MEd, RDN, LDN
Q: Is celiac disease hereditary? I have a sibling and an adult child who have celiac disease

Answer


Yes, celiac disease is a genetic disease and hereditary, so if you have a relative with the disease the risk is higher to have it.

Prevalence of celiac disease:

1st degree relative with celiac disease (parent, child, sibling): 1 in 22

2nd degree relative with celiac disease (aunt/uncle/grandparents): 1 in 39

US population: 1 in 133 (1)

It is recommended that first degree relatives get tested for celiac disease. Since you have a sibling and child with celiac disease, you should get tested. Generally, celiac testing is done in two steps, first a blood test to look for celiac-related antibodies also referred to as a “celiac panel.” A celiac panel should include total IgA and tissue transglutaminase IgA (tTG IgA). If that is positive or there is strong evidence of celiac disease then an endoscopy with a biopsy of the small intestine is done. It is very important that you do not start a gluten-free diet before testing and diagnosis. Once on a gluten-free diet, antibodies to gluten will start to drop in the blood and the intestine will start to heal so there is a risk of a false negative result on both the blood test and endoscopy. Some doctors recommend that first degree relatives of people with celiac disease get tested every 3-5 years.

There is also a genetic test that tests for genes associated with celiac disease, however it can only rule celiac disease out. It won't tell you if you have celiac disease, only if you carry the gene. But if you do not have the gene then celiac disease is very unlikely. A genetic test can sometimes be used as a first step if you should go on with further testing. Over 30% of the population carry the gene for celiac disease (most people with celiac disease have either the HLA DQ2 or HLA DQ8 gene), however less than 5 percent of those will develop celiac disease (2). It is unknown what turns the gene on, but once the disease is activated it cannot be reversed.

References:

  1. Fasano A, Berti I, Gerarduzzi T, Not T, Colletti RB, Drago S, Elitsur Y, Green PH, Guandalini S, Hill ID, Pietzak M, Ventura A, Thorpe M, Kryszak D, Fornaroli F, Wasserman SS, Murray JA, Horvath K. Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med. 2003 Feb 10;163(3):286-92.
  2. UChicago Medicine. Celiac Answer Bank. Celiac Disease Center Website. http://www.cureceliacdisease.org/faq/what-percentage-of-those-with-the-genes-will-develop-celiac-disease/ . Published August 2012. Updated 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.

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