Who's at Risk for Celiac Disease?

Each of These Groups Has a Relatively High Celiac Disease Risk

The following groups are at higher-than-average risk for celiac disease, according to the American Gastroenterological Association (AGA) and the American College of Gastroenterology.

Note: It is now possible to perform DNA tests to test for a genetic predisposition to celiac disease. If you do not have a genetic predisposition, it is almost impossible for you to develop celiac disease, even if you’re in one of the risk groups listed below.

Relatives of People with Celiac Disease

First-degree relatives (parents, children, and siblings) and second-degree relatives (grandparents, aunts, uncles, nieces, nephews, and half-siblings) of patients with celiac disease are at higher risk for biopsy-confirmed celiac disease compared to the general population. The prevalence is particularly high among first-degree relatives of celiac individuals in families with more than one celiac patient.

People with Iron Deficiency Anemia

The prevalence of celiac disease is also high in people with iron-deficiency anemia that can’t be explained by any other diagnosis, regardless of whether the anemic person has any gastrointestinal (GI) symptoms. For example, among people with iron deficiency and no GI symptoms of celiac disease, 2% to 5% will have positive celiac disease blood tests and 3% to 9% will have positive biopsies, according to the AGA.

The prevalence of celiac disease in iron-deficiency anemia patients who do have GI symptoms is even higher: 10% to 15%. Therefore, the AGA recommends that any adult with unexplained iron-deficiency anemia, including menstruating women, be tested for celiac disease.

People with Premature Osteoporosis and Osteopenia

Researchers advise that all patients who develop osteoporosis at a young age get tested for celiac disease.

In addition, elderly patients with osteoporosis that doesn't seem to respond to medication should also be tested for celiac disease.

People with Type 1 Diabetes Mellitus

According to the AGA, the prevalence of celiac disease in patients with type 1 diabetes mellitus ranges from 3% to 8% in children and 2% to 5% in adults. The AGA advises doctors to be on the lookout for celiac disease symptoms in patients with type 1 diabetes and suggests that if a patient with type 1 diabetes is undergoing endoscopy for any reason, “duodenal biopsies should be considered.”

People with Autoimmune Thyroid Disease

In autoimmune thyroid conditions, the thyroid gland can be either overactive or underactive. The prevalence of celiac disease in patients with autoimmune thyroid disease ranges from 1.5% to 6.7%. The AGA says that patients with autoimmune thyroid disease do not need to be tested for celiac disease unless they have symptoms.

Women with Reproductive Disorders

In women with unexplained infertility, the prevalence of celiac disease ranges from 2.1% to 4.1%, according to the AGA. Celiac disease has been linked with delayed onset of menstruation, fewer live births, and higher miscarriage rates. Following a gluten-free diet improves fertility in women with celiac disease.

People with Irritable Bowel Syndrome (IBS)

One British study found that the chance of having celiac disease was 7 times higher for patients with IBS than for the general public. In an Iranian study, nearly 10% of IBS patients also had celiac disease. In December 2008, the American College of Gastroenterology advised that any patient with IBS who has diarrhea or a mixture of diarrhea and constipation should be tested for celiac disease.

People with Liver Disease

The AGA advises that doctors should “have a low threshold for testing for celiac disease” in patients with any of the following liver disorders (in other words, don’t hesitate to test if the patient has any symptom that might be related to celiac disease):

  • Unexplained abnormal results on blood tests of liver enzymes (prevalence of celiac disease: 1.5% to 9.0%)
  • Autoimmune hepatitis (prevalence of celiac disease: 2.9% to 6.4%)
  • Primary biliary cirrhosis (prevalence of celiac disease: up to 6%)

People with Down Syndrome or Turner’s Syndrome

The AGA statement notes that the risk of celiac disease in people with Down syndrome "is at least 5 times that of the general population.” Specifically, the AGA says, the prevalence of celiac disease in patients with Down syndrome ranges from 3% to 12%.

The prevalence of celiac disease also seems to be higher than normal in girls with Turner’s syndrome and may also be increased in patients with Williams syndrome, according to the AGA.

People with Certain Other Diseases

The AGA also cautions that celiac disease has been associated with certain other conditions, including very short stature in childhood, Addison’s disease, Sjögren’s syndrome, immunoglobulin (Ig) A nephropathy (a kidney disorder, with symptoms that include blood in the urine), idiopathic epilepsy (epilepsy with no known cause), brain calcifications, and ataxia.

Groups with High Prevalences of Celiac Disease*
*According to the American Gastroenterological Association (AGA) Institute
Conditions Linked with Particularly High RiskConditions Linked with Higher-than-Average Risk
Iron Deficiency Anemia
Premature Osteoporosis
Down Syndrome
Unexplained Elevations in Liver Enzymes
Primary Biliary Cirrhosis
Autoimmune Hepatitis
Type 1 Diabetes Mellitus
Autoimmune Thyroid Disease
Sjögren’s syndrome
Unexplained Recurrent Fetal Loss
Unexplained Delayed Puberty
Selective IgA Deficiency
Irritable Bowel Syndrome
Turner’s Syndrome
Peripheral Neuropathy
Cerebellar Ataxia
Recurrent Migraine
Short Stature
1st- or 2nd-Degree Relative with Celiac Disease

Sources:

AGA Institute Medical Position Statement on the Diagnosis and Management of Celiac Disease. Gastroenterology 2006;131:1977–1980 http://www.gastrojournal.org/article/S0016-5085(06)02226-8/pdf

The American College of Gastroenterology: ACG Releases Evidence-Based Systematic Review on Management of Irritable Bowel Syndrome. http://gi.org/

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