Correspondence
Case 5-2001: Unsuspected Celiac Disease
N Engl J Med 2001; 344:1950-1951June 21, 2001
- Article
To the Editor:
A recent Case Record (Feb. 15 issue)1 highlighted the importance of considering celiac disease in an adult with iron deficiency. It is usual in Australia for a small-bowel biopsy to be performed in patients with iron deficiency, and had this practice been followed in the case reported, many investigations might have been avoided.
Celiac disease is underdiagnosed chiefly because many adults with the disease exhibit few of the classic symptoms associated with untreated celiac disease — weight loss, steatorrhea, and a deficiency of folate, iron, or both. In parts of the world populated by descendants of northern European migrants, the prevalence of celiac disease may approach that reported in Northern Ireland in 1997 — approximately 1 in 90 of the adult population selected at random.2
By including a routine small-bowel biopsy, I prospectively assessed the prevalence of celiac disease in 100 consecutive patients who were undergoing gastroscopy. A total of 97 small-bowel biopsies were performed in 100 patients; in 5 of the 97 patients (5.2 percent), the biopsy specimen showed typical histologic features of celiac disease, and in all 5 serologic tests were positive for IgA antibody to tissue transglutaminase. In only one of these five was celiac disease suspected clinically, on the basis of anemia due to iron and folate deficiency. Five other patients with anemia did not have celiac disease. None of the eight patients who presented with diarrhea had celiac disease.
The principal implication of this study is that unsuspected celiac disease can be detected in a substantial proportion of patients who have been scheduled for gastroscopy. The timely diagnosis of celiac disease is important for the relief of symptoms, the correction of nutritional deficiencies, and the reduction of the risk of cancer by adherence to a gluten-free diet.
2 ReferencesJeremy Ryan, F.R.A.C.P.
Brighton Gastroenterology Associates, Brighton 3186, Victoria, Australia1
Case Records of the Massachusetts General Hospital (Case 5-2001). N Engl J Med 2001;344:510-517
Full Text | Web of Science | Medline2
Johnston SD ,Watson RG ,McMillan SA ,Sloan J ,Love AH . Prevalence of coeliac disease in Northern Ireland. Lancet 1997;350:1370-1370
CrossRef | Web of Science | Medline
Author/Editor Response
The author replies:
To the Editor: Dr. Ryan suggests that unsuspected celiac disease may be detected in a substantial proportion of patients who are undergoing upper endoscopy by the performance of a small-bowel biopsy, and he found a high prevalence of about 1 in 20 in his Australian series. He suggests that duodenal biopsies should be obtained routinely. It is true, as Ryan points out, that the diagnosis of adult celiac disease is often delayed because the classic diarrheal syndrome with vitamin and mineral deficiencies is no longer common and subtle atypical manifestations may not lead the physician to consider the diagnosis. It is also true that duodenal biopsy is simple and adds little time to the endoscopic procedure. However, biopsy adds substantial cost, and minor mucosal changes are subject to the interpretation of the pathologist.1 Furthermore, the likelihood of discovering celiac disease by endoscopy depends on its prevalence in the population being examined and patients' indication for the procedure.
In the United States, the prevalence of celiac disease varies from 1 in 4600 in biopsy-proven clinical disease to 1 in 250 in healthy blood donors identified by serologic screening.2,3 The current indications for duodenal biopsy include presentation with classic symptoms and positive serologic tests necessitating confirmation of the diagnosis. Other groups at higher risk for celiac disease, in whom duodenal biopsies may lead to the diagnosis, include patients with atypical features who undergo upper endoscopy during the workup of unexplained dyspepsia, iron-deficiency anemia, or chronic intermittent diarrhea.4 In a recent national survey of 1130 patients with biopsy-proven celiac disease in the United States, 85 percent reported having diarrhea, and one third of the patients had a previous diagnosis of irritable bowel syndrome.5
Because the presenting features of celiac disease are often trivial or subtle, a high index of suspicion is needed in diagnosis. We have to distinguish targeted case finding in high-risk groups such as patients with thyroid disorders, dermatitis herpetiformis, or type 1 diabetes mellitus from the screening of asymptomatic persons. Recent advances in serologic testing with antibody to human tissue transglutaminase have provided us with a simple enzyme-linked immunosorbent assay that is both sensitive and specific and that can be used in these groups, as well as in patients who have extraintestinal features such as iron-deficiency anemia, low bone mineral density, recurrent oral aphthous ulcers, neurologic symptoms, infertility, or unexplained elevations of liver enzymes.6 Although a gluten-free diet is recommended for all patients with celiac disease, it appears unlikely that persons who are identified as having silent cases will adhere strictly to such a diet. Furthermore, it is not known whether the recognition and dietary treatment of celiac disease in asymptomatic adult populations will result in an improvement in well-being or the prevention of potential complications such as cancer.
6 ReferencesFarhad Navab, M.D.
Baystate Medical Center, Springfield, MA 011991
Arranz E ,Ferguson A . Intestinal antibody pattern of celiac disease: occurrence in patients with normal jejunal biopsy histology. Gastroenterology 1993;104:1263-1272
Web of Science | Medline2
Talley NJ ,Valdovinos M ,Petterson TM ,Carpenter HA ,Melton LJ III . Epidemiology of celiac sprue: a community-based study. Am J Gastroenterol 1994;89:843-846
Web of Science | Medline3
Not T ,Horvath K ,Hill ID , et al. Celiac disease risk in the USA: high prevalence of antiendomysium antibodies in healthy blood donors. Scand J Gastroenterol 1998;33:494-498
CrossRef | Web of Science | Medline4
Maki M ,Collin P . Coeliac disease. Lancet 1997;349:1755-1759
CrossRef | Web of Science | Medline5
Green PHR ,Stavropoulos SN ,Panagi SG , et al. Characteristics of adult celiac disease in the USA: results of a national survey. Am J Gastroenterol 2001;96:126-131
CrossRef | Web of Science | Medline6
Sblattero D ,Berti I ,Trevisiol C , et al. Human recombinant tissue transglutaminase ELISA: an innovative diagnostic assay for celiac disease. Am J Gastroenterol 2000;95:1253-1257
CrossRef | Web of Science | Medline
- Citing Articles (3)
Citing Articles
1
David S. Sanders, David P. Hurlstone. (2005) Do patients with unrecognized coeliac disease present as an emergency?. European Journal of Emergency Medicine 12:6, 303-305
CrossRef2
David S. Sanders, Andrew D. Hopper, Iman A. F. Azmy, Nahida Rahman, David P. Hurlstone, John S. Leeds, Rina R. George, Neeraj Bhala. (2005) Association of Adult Celiac Disease With Surgical Abdominal Pain. Annals of Surgery 242:2, 201-207
CrossRef3
Melanie Michael. (2003) Recognizing and Managing Celiac Disease in Primary Care. Journal of the American Academy of Nurse Practitioners 15:3, 108-114
CrossRef
