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Celiac Disease Presenting as Iron and B12 Deficiency Anemia with Progression to Adenocarcinoma

Evan Domeyer, DO, Gundersen Lutheran Medical Center, La Crosse, WI

Celiac disease is characterized by villous atrophy, malabsorption, and an increased risk for intestinal malignancy. Presenting symptoms include diarrhea, flatulence, weight loss, and fatigue. Complications include anemia, osteopenic bone disease, peripheral neuropathy, secondary hyperparathyroidism, malignancy and progression of disease to refractory sprue. Patients with celiac sprue usually respond well to gluten-free diet and the prognosis is excellent. However, patients with refractory sprue have a greater risk for progression to malignancy and a much higher overall mortality rate.

A 49 year-old female presented with complaints of nausea, dizziness, weakness, dyspnea on exertion, 20-25 pound weight loss, and ice pica for the past 3 months. She denied abdominal pain, change in stools, melena or hematochezia. Physical exam was unremarkable except for anemic pallor and guaiac positive stools. Initial laboratory tests showed a hemoglobin of 8.0, MCV of 83.1, serum iron of 21, TIBC of 374, and percent saturation of 6, and a vitamin B12 of 98. This was consistent with iron deficiency and B12 deficiency anemia. The patient then underwent upper and lower endoscopies. Colonoscopy revealed a single small hyperplastic polyp and upper endoscopy showed featureless duodenal mucosa. Biopsies revealed severe villous atrophy and intraepithelial lymphocytosis consistent with the diagnosis of celiac sprue. Small bowel follow through was then performed and showed some flattening of the mucosa in the proximal jejunum. The C-loop was notably prominent. Pancreatic head mass was excluded with a CT scan. The patient was discharged on iron supplements, B12 injections and gluten free diet. She was feeling well until 5 months after the initial presentation when she developed severe back and abdominal pain. CT of abdomen and pelvis revealed a 7x8x10.5 cm mass arising from the small bowel at the junction of duodenum and jejunum. Enteroscopy was performed and biopsies confirmed stage IV adenocarcinoma of the small bowel. Surgical consultation was obtained and the mass was deemed unresectable. The patient was sent for palliative chemotherapy.

Iron deficiency anemia is a common complication of celiac sprue and is usually due to impaired iron absorption in untreated patients. B12 deficiency is present only when there is severe ileal disease. A high index of suspicion for signs of malabsorption needs to be maintained when evaluating patients with iron deficiency anemia. A thorough evaluation to rule out malignancy must be undertaken whenever a patient with known celiac disease presents with a exacerbation.

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