The many faces of celiac disease: Clinical presentation of celiac disease in the adult population

doi:10.1053/j.gastro.2005.02.016

Gastroenterology

Volume 128, Issue 4, Supplement 1, April 2005, Pages S74-S78

https://doi.org/10.1053/j.gastro.2005.02.016 Get rights and content

The major modes of presentation of patients with celiac disease are the classic diarrhea-predominant form and silent celiac disease. Those with silent celiac disease lack diarrhea, although they may present with manifestations of celiac disease that include an irritable bowel syndrome, anemia, osteoporosis, neurologic diseases, or malignancy. A significant proportion of patients are diagnosed through screening at-risk groups including relatives of patients and insulin-dependant diabetics. Nondiarrheal presentations now are seen more commonly than those with diarrhea. Patients with celiac disease have a greater burden of disease than the general population because of autoimmune diseases and malignancies. There is a need for screening studies of patients with conditions associated with celiac disease to determine whether the large numbers of people with undiagnosed celiac disease currently are seeking health care.

Section snippets

Modes of presentation

The classification of the main modes of presentation of adults with celiac disease into classic (diarrhea predominant) and silent is accepted widely.⁹ The silent group includes atypical presentations and those presenting with complications of celiac disease as well as truly asymptomatic individuals picked up through screening high-risk groups.

Modes of presentation of adults with celiac disease in the United States

In view of a lack of current information on the clinical presentation of celiac disease in the United States, we obtained data on 1138 people with biopsy examination–proven celiac disease.¹⁰ Our results showed that the majority of individuals were diagnosed in their 4th to 6th decades. Women predominated (2.9:1); however, the female predominance was less marked in the elderly. Diarrhea was the main mode of presentation, occurring in 85%. Most strikingly, symptoms were present a mean of 11 years

Iron-deficiency anemia

Iron-deficiency anemia was the mode of presentation in 8% of the individuals seen by us.¹¹ In a study from the Mayo Clinic, celiac disease was identified as the cause of iron deficiency in 15% of those undergoing endoscopic assessment for iron deficiency.¹⁵ In a prospective study of adults, mean age in their 50s, Karnum et al¹⁶ found 2.8% to have celiac disease. However, it is a well-accepted practice that when iron deficiency is discovered in a menstruating female there is usually no alternate

Decreased bone density

A similar percent of patients, 7%, were diagnosed with celiac disease during the evaluation of decreased bone density (osteopenia and osteoporosis).¹⁷ More of the men had more severe osteoporosis than women. Certainly men and premenopausal women with osteoporosis should be evaluated for celiac disease even if they lack evidence of calcium malabsorption, although the yield in menopausal women is low.¹⁸

Recognition of celiac disease at endoscopy

An increasingly important mode of presentation is the recognition of endoscopic signs of villous atrophy in individuals who undergo endoscopy for symptoms not associated typically with celiac disease. These endoscopic signs include a decrease in duodenal folds, scalloping of folds, and the presence of mucosal fissures. The indications for upper-gastrointestinal endoscopy include dyspepsia, upper abdominal pain, or gastroesophageal reflux. In the latter period of our study, this mode of

Screening-detected celiac disease

Screening of high-risk groups, especially relatives of patients with celiac disease, is a major mode of presentation. Studies reveal that 5%–10% of first-degree relatives of patients with celiac disease have serologic and biopsy examination evidence of the disease.6, 8 These cases are found in 25% of the families. Not all those detected by screening are asymptomatic.

Another group that frequently is subject to screening is insulin-dependent diabetic patients; as a result celiac disease is

Atypical presentations

Among the atypical presentations that we have encountered are neurologic problems. We have found that 8% of those attending a peripheral neuropathy center, for evaluation of peripheral neuropathy, had celiac disease.25, 26 The neuropathy typically is sensory in type, involving the limbs and sometimes the face. Nerve conduction studies frequently are normal; however, skin biopsy specimens reveal nerve damage in small fibers. We also have identified patients with severe ataxia.²⁷ We have not

Burden of disease in patients with celiac disease

Patients with celiac disease appear to have a large burden of other diseases. As well as osteoporosis and anemia, patients have an increased rate of autoimmune diseases and malignancies. Among the patients seen at the Celiac Center at Columbia, 30% have at least 1 associated autoimmune disorder; this compares with 3% in the general population.35, 36 This is a comparable figure with the prevalence of autoimmune diseases in an Italian population with celiac disease.³⁷ The diseases include type 1

Seronegative celiac disease

Not all patients have positive endomysial or tissue transglutaminase antibodies at presentation.13, 39, 40, 41, 42 The presence of positive antibodies correlates with the degree of villous atrophy, and possibly the mode of presentation of celiac disease.39, 43, 44, 45 Clinically, patients with and without a positive endomysial antibody are similar.39, 40

Ethnic origins of patients with celiac disease

Celiac disease is common in populations of European origin. However, the greatest reported prevalence is in a North African refugee population⁴⁶ and the disease frequently is recognized in the Middle East and India as well as South America.47, 48, 49, 50, 51 Although not commonly recognized in African Americans, Hispanics, or Asians in North America, there are reported cases of celiac disease identified from these ethnic groups, indicating that the disease should be considered in any ethnic

Summary

In summary, adults with celiac disease in the United States present after a long duration of symptoms, although the duration of symptoms is decreasing. Non–diarrhea-predominant presentations, or those with silent celiac disease, are the most frequent presentation. Those patients that are in the exposed, diagnosed portion of the adult celiac disease iceberg in the United States have a greater burden of diseases than the general public. It remains to be determined whether early diagnosis will

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The only treatment for celiac disease (CD) is a strict gluten-free diet (GFD). Nutritional deficiencies are common in CD; however, how this is influenced by the presence of symptoms, duration of CD, and compliance of GFD is less clear. The objective of this study was to compare nutritional deficiencies in patients with CD to those of nonceliac populations on a GFD. The secondary outcomes were to compare deficiencies in short- (<2 y) versus long-term (≥2 y) GFD, and in those with persistent symptoms versus asymptomatic.
We included patients seen at the McMaster Celiac Clinic from June 2018 to August 2020. GFD adherence was assessed with the Celiac Dietary Adherence Test, and CD serology, vitamins, and trace minerals were measured in blood samples. We enrolled 221 patients, including 182 patients with CD and 39 controls.
Overall, 103 of 182 patients with CD (56.6%) were following a GFD for >2 y and 119 patients (69.2%) were symptomatic. The most common micronutrient deficiencies were zinc (48.3%), ferritin (16.9%), and vitamin D (33.3%). There were no differences in micronutrient deficiencies between patients with CD and nonceliac controls, short- and long-term GFDs, or those strictly compliant with GFD and those who were fairly compliant (P > 0.05).
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Analyses were conducted for a sample of 308 subjects, majority females, celiac and non-celiac. Adherence to GFD was measured considering two scales, self-declared adherence and scored adherence, in order to discern possible inconsistencies between what subjects believe and what they really do. Subsequently, adherence to GFD was modelled by considering constructs of MTM and IM. Moreover, the constructs were designed based on literature review. Ordered logit (OL) model was used to test the IM and MTM theoretical models.
The findings show that adherence to GFD is affected mainly by attitudes towards GFD, self-efficacy, injunctive norms, knowledge about GFD and health conditions. Between the two models, IM and MTM, results show that all constructs of IM explain the behaviour. Contrary, for MTM, results indicate only some constructs of the MTM explain adherence to GFD.
Results of this study should be considered for improving the adherence to GFD for celiac people. Furthermore, it is important to consider the non-celiac people's perceptions for GFD and GF products. In other words an accurate information about the diet and products it is relevant for supporting people to make healthier food choices. Finally, as the results show, IM explain adherence to GFD better than MTM.
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The many faces of celiac disease: Clinical presentation of celiac disease in the adult population

Section snippets

Modes of presentation

Modes of presentation of adults with celiac disease in the United States

Iron-deficiency anemia

Decreased bone density

Recognition of celiac disease at endoscopy

Screening-detected celiac disease

Atypical presentations

Burden of disease in patients with celiac disease

Seronegative celiac disease

Ethnic origins of patients with celiac disease

Summary

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J Neuroimmunol

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Clin Immunol Immunopathol

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Coeliac disease, vasculitis, and cryoglobulinaemia

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The changing clinical presentation of coeliac disease in adults

Med J Aust