Celiac disease is a prevalent, under-recognized autoimmune disease caused by the ingestion of gluten, and can develop at any age.1,2

Its prevalence has historically been underestimated, but it is now recognized as one of the most common genetic disorders in the Western world, with a prevalence of 1 percent in the general population.1 However, about 75 percent of patients with celiac disease remain undiagnosed.1,2

What populations are at high risk of having or developing celiac disease?


A patient who presents with any symptoms of celiac disease is more likely to have the condition than someone who is asymptomatic.3 However, celiac disease can be clinically 'silent', with no obvious symptomology. Silent disease often results in severe intestinal villous atrophy and detrimental health-effects in the long-term, which makes the identification and treatment of asymptomatic patients important.1,4 

Family history

Celiac disease arises in people with predisposing genetic factors, involving both HLA and non-HLA genetic variants. This has been indicated by several genetic studies, and the presence of high disease concordance in monozygotic twins.1

  • First-degree relatives have an 8 percent chance of developing celiac disease; in second-degree relatives, the risk decreases to 2 percent.5


There are a number of medical conditions that may predispose to, or be a sign of, celiac disease.1

Other autoimmune conditions are more common in patients with celiac disease than in the general population.1 The prevalence of celiac disease is:

  • Up to 15 percent in patients with type 1 diabetes.1
  • Up to 5 percent in patients with autoimmune thyroid disease.6
  • Around 10 percent in patients with Sjögren’s syndrome.7

Certain genetic syndromes are associated with a higher prevalence of celiac disease than that of the general population, including:8-10

  • Down’s syndrome (6 percent).8
  • Turner syndrome (6 percent).9
  • Williams syndrome (10 percent).10

Unexplained iron, vitamin B12, or folate deficiency can be a sign of celiac disease.11

  • Iron deficiency is present in up to 80 percent of patients with celiac disease at diagnosis.4
  • Up to 5 percent of patients with iron deficiency anemia have celiac disease.4

Elevated serum aminotransferase levels can be a sign of celiac disease.4

  • Over 20 percent of patients with newly diagnosed celiac disease have abnormal serum transaminases.12

People with a diagnosis of irritable bowel syndrome (IBS) are more likely to have celiac disease than the general population.13

  • Up to 5 percent of patients diagnosed with IBS (based on symptom criteria) have celiac disease.13
  • 28 percent of patients with celiac disease first receive treatment for IBS.14

Subfertility or recurrent miscarriages can be a sign of celiac disease.15

  • Up to 8 percent of women with unexplained infertility have celiac disease.15 
Screening for celiac disease is recommended in these patient populations and may help identify the large proportion of undiagnosed cases, facilitating the implementation of the appropriate management.4

Tissue transglutaminase (tTG) IgA is the recommended first-line test for celiac disease, together with total IgA to check for IgA deficiency.4

HLA: human leukocyte antigen; IgA: immunoglobulin A  

1. Gujral N, Freeman H J, Thomson A B. Celiac disease: prevalence, diagnosis, pathogenesis and treatment. World J Gastroenterol 2012;18(42):6036-6059

2. West J, Fleming K M et al. Incidence and prevalence of celiac disease and dermatitis herpetiformis in the UK over two decades: population-based study. Am J Gastroenterol 2014;109(5):757-768

3. Fasano A, Berti I et al. Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med 2003;163(3):286-292

4. Al-Toma A, Volta U et al. European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. United European Gastroenterol J 2019;7(5):583-613

5. Singh P, Arora S et al. Risk of celiac disease in the first- and second-degree relatives of patients with celiac disease: a systematic review and meta-analysis. Am J Gastroenterol 2015;110(11):1539-1548

6. Ch'ng C L, Jones M K, Kingham J G. Celiac disease and autoimmune thyroid disease. Clin Med Res 2007;5(3):184-192

7. Green P H, Jabri B. Celiac disease. Annu Rev Med 2006;57:207-221

8. Du Y, Shan L F et al. Prevalence of celiac disease in patients with Down syndrome: a meta-analysis. Oncotarget 2018;9(4):5387-5396

9. Bonamico M, Pasquino A M et al. Prevalence and clinical picture of  celiac disease in Turner syndrome. J Clin Endocrinol Metab 2002;87(12):5495-5498

10. Giannotti A, Tiberio G et al. Coeliac disease in Williams syndrome. J Med Genet 2001;38(11):767-768

11. Halfdanarson T R, Litzow M R, Murray J A. Hematologic manifestations of celiac disease. Blood 2007;109(2):412-421

12. Sainsbury A, Sanders D S, Ford A C. Meta-analysis: coeliac disease and hypertransaminasaemia. Aliment Pharmacol Ther 2011;34(1):33-40

13. El-Salhy M, Hatlebakk J G et al. The relation between celiac disease, nonceliac gluten sensitivity and irritable bowel syndrome. Nutr J 2015;14:92

14. Card T R, Siffledeen J et al. An excess of prior irritable bowel syndrome diagnoses or treatments in celiac disease: evidence of diagnostic delay. Scand J Gastroenterol 2013;48(7):801-807

15. Shah S, Leffler D. Celiac disease: an underappreciated issue in women's health. Womens Health (Lond) 2010;6(5):753-766