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Clinical Crossroads
October 12, 2011

Celiac Disease Diagnosis and Management: A 46-Year-Old Woman With Anemia

Author Affiliations

Author Affiliations: Department of Gastroenterology, Beth Israel Deaconess Medical Center, and Department of Medicine, Harvard Medical School, Boston, Massachusetts.

JAMA. 2011;306(14):1582-1592. doi:10.1001/jama.2011.1312
Abstract

Celiac disease is one of the most prevalent autoimmune gastrointestinal disorders, but as the case of Ms J illustrates, diagnosis is often delayed or missed. Based on serologic studies, the prevalence of celiac disease in many populations is estimated to be approximately 1% and has been increasing steadily over the last 50 years. Evaluation for celiac disease is generally straightforward and uses commonly available serologic tests; however, the signs and symptoms of celiac disease are nonspecific and highly heterogeneous, making diagnosis difficult. Although celiac disease is often considered a mild disorder treatable with simple dietary changes, in reality celiac disease imparts considerable risks, including reduced bone mineral density, impaired quality of life, and increased overall mortality. In addition, a gluten-free diet is highly burdensome and can profoundly affect patients and their families. For these reasons, care of individuals with celiac disease requires prompt diagnosis and ongoing multidisciplinary management.

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Oscar M Jolobe, Mb., ChB | Manchester Medical Society
Symptoms which should prompt testing for celiac disease include diarrhea(even when the latter is initially thought to be attributable to irritable bowel syndrome), weight loss, and dyspepsia(1), and symptoms of anemia such as lassitude and glossitis(2). Although the diagnosis is made most accurately by biopsy of the proximal small intestine(1)(3), a useful screening test is the documentation of serum IgA antibodies to tissue transglutaminase(1). Patients with IgA deficiency should be screened with an IgG test(1). In a comparison of test accuracy of transglutaminase autoantibodies(TGAA) across 20 participating laboratories it emerged that laboratory sensitivity ranged from 69% to 93%, and specificity ranged from 96% to 100%(4). Given the above observations(4), and the fact that "a small but significant number of cases of celiac disease will be missed by relying on serology alone"(3), all suspected cases should have histological confirmation. Populations that should be screened include first degree family members or other close relatives of patients with biopsy confirmed celiac disease. Other candidates are individuals with type 1 diabetes, autoimmune thyroid and adrenal disease, hepatobiliary disorders, Down syndrome, Turner syndrome(2). Screening tests(using TGAA) should be undertaken only if the individual is willing to undergo endoscopy with intestinal biopsy, and embark on gluten free diet if necessary. Genetic screening for HLA-DQ2 and HLA-DQ8 genes might be a useful additional strategy in family members who are suspected of having false negative TGAA, given the fact that the absence of the culprit genotype has a high negative predictive value for diagnosing celiac disease(2). Over and above adherence to a gluten-free diet, haematinic deficiencies(which may include iron, folate and vitamin B12) should be corrected(2). Vitamin D deficiency should be corrected, as should fluid and electrolyte deficits(2). Celiac disease that is refractory to gluten free diet might respond to immunosuppressive treatment(2)Adherence to a gluten free diet is mandatory and is never optional(2). In view of potential haematinic and vitamin deficiencies patients with celiac disease should be tested for these deficits, and, arguably also for diabetes, thyroid, and adrenal disease. Monitoring is primarily for documentation of symptom resolution, weight gain, and improvement in laboratory abnormalities. Monitoring is also for the purpose of evaluating adherence to gluten free diet, especially in non-responders. Non response despite dietary compliance should be an indication fro capsule endoscopy to evaluate complications such as ulcerative jejunitis and lymphoma(5) References
(1) Crowe SE Celiac Disease Annals of Internal Medicine 3rd May 2011;ITC-1 to ITC 14
(2) Cooke WT., Peeney ALP., Hawkins CF Symptoms, signs, and diagnostic features of idiopathic steatorroea Q J Med 1953 New Series XXII, No 85 59-77
(3) Sweis R., Pee L., Smith-Laing G Discrepancies between histology and serology for the diagnosis of coeliac disease in a district general hospital: is this an unrecognised problem in other hospitals? clinical Medicine 2009;9:346-8
(4) Li M., Yu L., Tiberti C et al A report on the international transglutaminase autoantibody workshop for celiac disease Am J Gastroenterol 2009;104:154-163
(5)Sidhu R., Sanders DS., Morris AJ., McAlindon ME Guidelines on small bowel enteroscopy and capsule endoscopy in adults GUT 2008;57:125-136
Conflict of Interest: None declared
CONFLICT OF INTEREST: None Reported
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