Celiac Disease: Diagnosis and Management



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Am Fam Physician. 2014 Jan 15;89(2):99-105.

This clinical content conforms to AAFP criteria for continuing medical education (CME). See CME Quiz Questions.

  Patient information: See related handout on celiac disease, written by the authors of this article.

  Related editorial: Non-Celiac Gluten Sensitivity: Important Diagnosis or Dietary Fad?

Author disclosure: No relevant financial affiliations.

Celiac disease is an autoimmune disorder of the gastrointestinal tract. It is triggered by exposure to dietary gluten in genetically susceptible individuals. Gluten is a storage protein in wheat, rye, and barley, which are staples in many American diets. Celiac disease is characterized by chronic inflammation of the small intestinal mucosa, which leads to atrophy of the small intestinal villi and subsequent malabsorption. The condition may develop at any age. Intestinal manifestations include diarrhea and weight loss. Common extraintestinal manifestations include iron deficiency anemia, decreased bone mineral density, and neuropathy. Most cases of celiac disease are diagnosed in persons with extraintestinal manifestations. The presence of dermatitis herpetiformis is pathognomonic for celiac disease. Diagnosis is supported by a positive tissue transglutaminase serologic test but, in general, should be confirmed by a small bowel biopsy showing the characteristic histology associated with celiac disease. The presence of human leukocyte antigen alleles DQ2, DQ8, or both is essential for the development of celiac disease, and can be a useful genetic test in select instances. Treatment of celiac disease is a gluten-free diet. Dietary education should focus on identifying hidden sources of gluten, planning balanced meals, reading labels, food shopping, dining out, and dining during travel. About 5% of patients with celiac disease are refractory to a gluten-free diet. These patients should be referred to a gastroenterologist for reconsideration of the diagnosis or for aggressive treatment of refractory celiac disease, which may involve corticosteroids and immunomodulators.

Celiac disease is an autoimmune disorder of the gastrointestinal tract caused by exposure to dietary gluten, which is a storage protein in wheat, rye, and barley.1,2 It is characterized by chronic inflammation of the small intestinal mucosa, which leads to atrophy of the intestinal villi and subsequent malabsorption. Celiac disease can produce a variety of manifestations, and it may develop at any age. It is also known as celiac sprue, nontropical sprue, gluten-induced enteropathy, or gluten-sensitive enteropathy.

SORT: KEY RECOMMENDATIONS FOR PRACTICE

Clinical recommendation Evidence rating References

Immunoglobulin A tissue transglutaminase should be used as the first-line test for serologic diagnosis of suspected celiac disease.

C

4245

Small bowel biopsy should be used to confirm the diagnosis of celiac disease in most patients.

C

2, 6, 8, 43

A gluten-free diet is the primary treatment for celiac disease.

B

1, 2, 6, 8, 43

A gluten-free diet improves the quality of life in those with symptomatic celiac disease.

B

50, 51


A = consistent, good-quality patient-oriented evidence; B = inconsistent or limited-quality patient-oriented evidence; C = consensus, disease-oriented evidence, usual practice, expert opinion, or case series. For information about the SORT evidence rating system, go to http://www.aafp.org/afpsort.

SORT: KEY RECOMMENDATIONS FOR PRACTICE

View Table

SORT: KEY RECOMMENDATIONS FOR PRACTICE

Clinical recommendation Evidence rating References

Immunoglobulin A tissue transglutaminase should be used as the first-line test for serologic diagnosis of suspected celiac disease.

C

4245

Small bowel biopsy should be used to confirm the diagnosis of celiac disease in most patients.

C

2, 6, 8, 43

A gluten-free diet is the primary treatment for celiac disease.

B

1, 2, 6, 8, 43

A gluten-free diet improves the quality of life in those with symptomatic celiac disease.

B

50, 51


A = consistent, good-quality patient-oriented evidence; B = inconsistent or limited-quality patient-oriented evidence; C = consensus, disease-oriented evidence, usual practice, expert opinion, or case series. For information about the SORT evidence rating system, go to http://www.aafp.org/afpsort.

Celiac disease occurs in persons of European ancestry and in those of Middle Eastern, Indian, South American, and North African descent.3,4 It is rare in persons of Asian descent. Celiac disease affects roughly 1% of the U.S. population.1,2 Given the lack of symptoms or vague symptoms associated with some forms of celiac disease, the condition often goes undiagnosed or is not diagnosed until later in life. Additionally, it is likely that many individuals with celiac disease have a subclinical or low-grade form. As with many autoimmune diseases, celiac disease is about two to three times more common in women.5  There are also a number of specific populations with an increased risk of celiac disease (Table 1).2,68 Although screening of the general population is not recommended, a heightened suspicion should be maintained in these high-risk groups.

Table 1.

Persons at Increased Risk of Celiac Disease

Group Percentage of group affected

First-degree relatives of a person with celiac

The Authors

TIMOTHY D. PELKOWSKI, MD, MS, FAAFP, is assistant director of the Saint Vincent Family Medicine Residency in Erie, Pa. At the time this article was written, Dr. Pelkowski was a fellow in the Faculty Development Fellowship in the Department of Family Medicine at the University of North Carolina School of Medicine in Chapel Hill.

ANTHONY J. VIERA, MD, MPH, is an associate professor in the Department of Family Medicine at the University of North Carolina School of Medicine.

Address correspondence to Timothy D. Pelkowski, MD, MS, FAAFP, Saint Vincent Family Medicine Residency, 2314 Sassafras St., 3rd Floor, Erie, PA 16502 (e-mail: tpelkowski@svhs.org). Reprints are not available from the authors.

REFERENCES

1. NIH Consensus Development Conference on Celiac Disease. NIH Consens State Sci Statements. 2004;21(1):1–23.

2. AGA Institute Medical Position Statement on the Diagnosis and Management of Celiac Disease. Gastroenterology. 2006;131(6):1977–1980.

3. Green PH, Cellier C. Celiac disease. N Engl J Med. 2007;357(17):1731–1743.

4. Setty M, Hormaza L, Guandalini S. Celiac disease: risk assessment, diagnosis, and monitoring. Mol Diagn Ther. 2008;12(5):289–298.

5. Gasbarrini G, Malandrino N, Giorgio V, et al. Celiac disease: what's new about it? Dig Dis. 2008;26(2):121–127.

6. Rostom A, Murray JA, Kagnoff MF. American Gastroenterological Association (AGA) Institute technical review on the diagnosis and management of celiac disease. Gastroenterology. 2006;131(6):1981–2002.

7. Ludvigsson JF, Green PH. Clinical management of coeliac disease. J Intern Med. 2011;269(6):560–571.

8. Hill ID, Dirks MH, Liptak GS, et al. Guideline for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2005;40(1):1–19.

9. Akobeng AK, Ramanan AV, Buchan I, Heller RF. Effect of breast feeding on risk of coeliac disease: a systematic review and meta-analysis of observational studies. Arch Dis Child. 2006;91(1):39–43.

10. Radlovic NP, Mladenovic MM, Lekovic ZM, Stojsic ZM, Radlovic VN. Influence of early feeding practices on celiac disease in infants. Croat Med J. 2010;51(5):417–422.

11. Norris JM, Barriga K, Hoffenberg EJ, et al. Risk of celiac disease autoimmunity and timing of gluten introduction in the diet of infants at increased risk of disease. JAMA. 2005;293(19):2343–2351.

12. Decker E, Engelmann G, Findeisen A, et al. Cesarean delivery is associated with celiac disease but not inflammatory bowel disease in children. Pediatrics. 2010;125(6):e1433–e1440.

13. Mårild K, Stephansson O, Montgomery S, Murray JA, Ludvigsson JF. Pregnancy outcome and risk of celiac disease in offspring: a nationwide case-control study. Gastroenterology. 2012;142(1):39–45.e3.

14. Stene LC, Honeyman MC, Hoffenberg EJ, et al. Rotavirus infection frequency and risk of celiac disease autoimmunity in early childhood: a longitudinal study. Am J Gastroenterol. 2006;101(10):2333–2340.

15. Crowe SE. In the clinic. Celiac disease. Ann Intern Med. 2011;154(9): ITC5-1–ITC5-15.

16. Rampertab SD, Pooran N, Brar P, Singh P, Green PH. Trends in the presentation of celiac disease. Am J Med. 2006;119(4):355.e9–14.

17. García-Manzanares A, Lucendo AJ. Nutritional and dietary aspects of celiac disease. Nutr Clin Pract. 2011;26(2):163–173.

18. Haines ML, Anderson RP, Gibson PR. Systematic review: the evidence base for long-term management of coeliac disease. Aliment Pharmacol Ther. 2008;28(9):1042–1066.

19. Halfdanarson TR, Litzow MR, Murray JA. Hematologic manifestations of celiac disease. Blood. 2007;109(2):412–421.

20. Harper JW, Holleran SF, Ramakrishnan R, Bhagat G, Green PH. Anemia in celiac disease is multifactorial in etiology. Am J Hematol. 2007; 82(11):996–1000.

21. Bolotin D, Petronic-Rosic V. Dermatitis herpetiformis. Part I. Epidemiology, pathogenesis, and clinical presentation. J Am Acad Dermatol. 2011;64(6):1017–1024.

22. Collin P, Reunala T. Recognition and management of the cutaneous manifestations of celiac disease: a guide for dermatologists. Am J Clin Dermatol. 2003;4(1):13–20.

23. Gawkrodger DJ, Blackwell JN, Gilmour HM, Rifkind EA, Heading RC, Barnetson RS. Dermatitis herpetiformis: diagnosis, diet and demography. Gut. 1984;25(2):151–157.

24. Gregory B, Ho VC. Cutaneous manifestations of gastrointestinal disorders. Part II. J Am Acad Dermatol. 1992;26(3 pt 2):371–383.

25. Garioch JJ, Lewis HM, Sargent SA, Leonard JN, Fry L. 25 years' experience of a gluten-free diet in the treatment of dermatitis herpetiformis. Br J Dermatol. 1994;131(4):541–545.

26. Bolotin D, Petronic-Rosic V. Dermatitis herpetiformis. Part II. Diagnosis, management, and prognosis. J Am Acad Dermatol. 2011;64(6):1027–1033.

27. Rubio-Tapia A, Murray JA. The liver in celiac disease. Hepatology. 2007;46(5):1650–1658.

28. Sainsbury A, Sanders DS, Ford AC. Meta-analysis: Coeliac disease and hypertransaminasaemia. Aliment Pharmacol Ther. 2011;34(1):33–40.

29. Goddard CJ, Gillett HR. Complications of coeliac disease: are all patients at risk? Postgrad Med J. 2006;82(973):705–712.

30. Freeman HJ. Neurological disorders in adult celiac disease. Can J Gastroenterol. 2008;22(11):909–911.

31. Grossman G. Neurological complications of coeliac disease: what is the evidence? Pract Neurol. 2008;8(2):77–89.

32. Hadjivassiliou M, Sanders DS, Grünewald RA, Woodroofe N, Boscolo S, Aeschlimann D. Gluten sensitivity: from gut to brain. Lancet Neurol. 2010;9(3):318–330.

33. Lionetti E, Francavilla R, Pavone P, et al. The neurology of coeliac disease in childhood: what is the evidence? A systematic review and meta-analysis. Dev Med Child Neurol. 2010;52(8):700–707.

34. Pastore L, Carroccio A, Compilato D, Panzarella V, Serpico R, Lo Muzio L. Oral manifestations of celiac disease. J Clin Gastroenterol. 2008; 42(3):224–232.

35. Rashid M, Zarkadas M, Anca A, Limeback H. Oral manifestations of celiac disease: a clinical guide for dentists. J Can Dent Assoc. 2011;77:b39.

36. Bianchi ML, Bardella MT. Bone in celiac disease. Osteoporos Int. 2008;19(12):1705–1716.

37. Olmos M, Antelo M, Vazquez H, Smecuol E, Mauriño E, Bai JC. Systematic review and meta-analysis of observational studies on the prevalence of fractures in coeliac disease. Dig Liver Dis. 2008;40(1):46–53.

38. American Gastroenterological Association medical position statement: guidelines on osteoporosis in gastrointestinal diseases. Gastroenterology. 2003;124(3):791–794.

39. Soni S, Badawy SZ. Celiac disease and its effect on human reproduction: a review. J Reprod Med. 2010;55(1–2):3–8.

40. Vogelsang H, et al. Screening for celiac disease: a prospective study on the value of noninvasive tests. Am J Gastroenterol. 1995;90(3):394–398.

41. Leffler D. Celiac disease diagnosis and management: a 46-year-old woman with anemia. JAMA. 2011;306(14):1582–1592.

42. Leffler DA, Schuppan D. Update on serologic testing in celiac disease. Am J Gastroenterol. 2010;105(12):2520–2524.

43. Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA. ACG clinical guidelines: diagnosis and management of celiac disease. Am J Gastroenterol. 2013;108(5):656–676.

44. Reddick BK, Crowell K, Fu B. Clinical inquiries: What blood tests help diagnose celiac disease? J Fam Pract. 2006;55(12):1088,1090,1093.

45. Lewis NR, Scott BB. Meta-analysis: deamidated gliadin peptide antibody and tissue transglutaminase antibody compared as screening tests for coeliac disease. Aliment Pharmacol Ther. 2010;31(1):73–81.

46. Husby S, Koletzko S, Korponay-Szabó IR, et al.; ESPGHAN Working Group on Coeliac Disease Diagnosis; ESPGHAN Gastroenterology Committee; European Society for Pediatric Gastroenterology, Hepatology, and Nutrition. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease [published correction appears in J Pediatr Gastroenterol Nutr. 2012;54(4):572]. J Pediatr Gastroenterol Nutr. 2012;54(1):136–160.

47. Sollid LM, Lie BA. Celiac disease genetics: current concepts and practical applications. Clin Gastroenterol Hepatol. 2005;3(9):843–851.

48. Pietzak MM, Schofield TC, McGinniss MJ, Nakamura RM. Stratifying risk for celiac disease in a large at-risk United States population by using HLA alleles. Clin Gastroenterol Hepatol. 2009;7(9):966–971.

49. Tjon JM, van Bergen J, Koning F. Celiac disease: how complicated can it get? Immunogenetics. 2010;62(10):641–651.

50. Ukkola A, Mäki M, Kurppa K, et al. Diet improves perception of health and well-being in symptomatic, but not asymptomatic, patients with celiac disease. Clin Gastroenterol Hepatol. 2011;9(2):118–123.

51. Nachman F, Mauriño E, Vázquez H, et al. Quality of life in celiac disease patients: prospective analysis on the importance of clinical severity at diagnosis and the impact of treatment. Dig Liver Dis. 2009;41(1):15–25.

52. Catassi C, Fabiani E, Iacono G, et al. A prospective, double-blind, placebo-controlled trial to establish a safe gluten threshold for patients with celiac disease. Am J Clin Nutr. 2007;85(1):160–166.

53. Haboubi NY, Taylor S, Jones S. Coeliac disease and oats: a systematic review. Postgrad Med J. 2006;82(972):672–678.

54. Pulido OM, Gillespie Z, Zarkadas M, et al. Introduction of oats in the diet of individuals with celiac disease: a systematic review. Adv Food Nutr Res. 2009;57:235–285.

55. Garsed K, Scott BB. Can oats be taken in a gluten-free diet? A systematic review. Scand J Gastroenterol. 2007;42(2):171–178.

56. Campanella J, et al. Clinical response to gluten withdrawal is not an indicator of coeliac disease. Scand J Gastroenterol. 2008;43(11):1311–1314.

57. Rashid M, et al. Home blood testing for celiac disease: recommendations for management [published correction appears in Can Fam Physician. 2009;55(4):352]. Can Fam Physician. 2009;55(2):151–153.

58. Hall NJ, Rubin G, Charnock A. Systematic review: adherence to a gluten-free diet in adult patients with coeliac disease. Aliment Pharmacol Ther. 2009;30(4):315–330.

59. Selimoğlu MA, Karabiber H. Celiac disease: prevention and treatment. J Clin Gastroenterol. 2010;44(1):4–8.

60. Smith DF, Gerdes LU. Meta-analysis on anxiety and depression in adult celiac disease. Acta Psychiatr Scand. 2012;125(3):189–193.

61. Malamut G, Afchain P, Verkarre V, et al. Presentation and long-term follow-up of refractory celiac disease: comparison of type I with type II. Gastroenterology. 2009;136(1):81–90.

62. Rubio-Tapia A, et al. Clinical staging and survival in refractory celiac disease: a single center experience. Gastroenterology. 2009;136(1):99–107.

This article is one in a series from the Faculty Development Fellowship of the Department of Family Medicine at the University of North Carolina at Chapel Hill. Guest editor of the series is Anthony J. Viera, MD, MPH.


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