Should a 36-year-old woman with iron deficiency anemia, vitamin D deficiency, oral mucosal ulcers, and vesicles on the elbows be tested for celiac disease or undergo esophagogastroduodenoscopy (EGD) and colonoscopy?

From the Guidelines

This 36-year-old woman should be tested for celiac disease given her constellation of symptoms, including iron deficiency, low vitamin D, small ulcers on the oral mucosa, and vesicles on the elbows. Initial testing should include celiac serologies (tissue transglutaminase IgA antibody and total IgA level) while maintaining a gluten-containing diet, as recommended by the American College of Gastroenterology 1. If serologies are positive, an upper endoscopy (EGD) with duodenal biopsies should be performed to confirm the diagnosis, following the guidelines suggested by the American Gastroenterological Association 1. Her presentation strongly suggests celiac disease with classic manifestations including iron deficiency, vitamin D deficiency, oral ulcers, and dermatitis herpetiformis-like vesicular lesions on the elbows, which are consistent with the extraintestinal manifestations of celiac disease resulting from immune-mediated damage to the small intestinal mucosa triggered by gluten exposure in genetically susceptible individuals 1. The small bowel villous atrophy leads to malabsorption of nutrients, explaining her deficiencies. If celiac disease is confirmed, treatment involves strict lifelong adherence to a gluten-free diet, which typically resolves symptoms and allows intestinal healing, as well as nutritional supplementation with iron and vitamin D until levels normalize 1. Key points to consider in her management include:

• The importance of testing for celiac disease in patients with iron deficiency anemia, especially when other causes are not evident 1
• The role of serologic testing as the initial step in diagnosing celiac disease, with endoscopy and biopsy reserved for those with positive serologies 1
• The potential need for iron supplementation in addition to a gluten-free diet, particularly if symptoms are severe or if iron stores do not recover sufficiently with dietary changes alone 1

From the Research

Patient Presentation

The patient is a 36-year-old woman presenting with iron deficiency, low vitamin D, small ulcers on the oral mucosa, and vesicles on the elbows.

Potential Diagnosis

Considering the patient's symptoms, celiac disease (CD) could be a potential diagnosis.

• Iron deficiency is a common sign in CD, and low vitamin D levels have also been associated with CD 2.
• The presence of small ulcers on the oral mucosa and vesicles on the elbows could be indicative of malabsorption and nutrient deficiencies, which are common in CD.

Diagnostic Approach

To confirm the diagnosis of CD, the following steps could be taken:

• Screen for anti-tissue transglutaminase (tTG) antibodies, which are a hallmark of CD 3, 4.
• If the tTG antibody level is high (5 times higher than the upper limit of normal), duodenal atrophy is likely, and a duodenal biopsy may not be necessary 3.
• However, if the tTG antibody level is not high, a duodenal biopsy may be necessary to confirm the diagnosis of CD.

Consideration of Other Tests

In addition to testing for CD, other tests could be considered to rule out other potential causes of the patient's symptoms:

• Endoscopy and colonoscopy (EGD/colon) may be necessary to rule out other causes of iron deficiency and malabsorption, such as gastrointestinal bleeding or inflammatory bowel disease.
• However, if CD is suspected, these tests may not be necessary initially, and a trial of a gluten-free diet could be considered instead.

Association with Vitamin D Deficiency

The patient's low vitamin D levels could be related to CD, as severe vitamin D deficiency has been associated with CD 2.

• The study found that patients with severe vitamin D deficiency (25(OH)D < 12.5 nmol/l) were more likely to have CD, and screening for CD was recommended in these patients.

Iron Deficiency and Celiac Disease

Iron deficiency is a common complication of CD, and it can persist despite a gluten-free diet 5, 6.

• The exact mechanisms of iron deficiency in CD are not fully understood, but they may involve malabsorption, inflammation, and ultrastructural and molecular alterations in enterocytes 6.